Andrea Superti-Furga
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Swiss and Italian paediatrician, geneticist and molecular biologist
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Andrea Superti-Furga's Degrees
- Doctorate Medicine University of Milan
- PhD Molecular Biology University of Milan
Why Is Andrea Superti-Furga Influential?
(Suggest an Edit or Addition)According to Wikipedia, Andrea Superti-Furga is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic Medicine at the Lausanne University Hospital and a professor at the Faculty of Medicine and Biology of the University of Lausanne.
Andrea Superti-Furga's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development (2001) (2175)
- Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision (2011) (665)
- Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. (2000) (653)
- Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification (2003) (569)
- Nosology and classification of genetic skeletal disorders: 2015 revision (2015) (488)
- Nosology and classification of genetic skeletal disorders: 2019 revision (2019) (369)
- Nosology and classification of genetic skeletal disorders: 2006 revision (2007) (316)
- Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis (1998) (311)
- Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. (1991) (285)
- PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. (2001) (282)
- Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. (2010) (270)
- Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia (1999) (257)
- Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis (2004) (248)
- Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (1996) (242)
- Exome Sequencing and the Management of Neurometabolic Disorders. (2016) (235)
- The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways (2008) (232)
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene (1996) (222)
- Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. (1996) (211)
- The Ehlers‐Danlos Syndrome (2003) (209)
- Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse (1998) (206)
- Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. (2003) (206)
- Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (2011) (198)
- Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (2012) (187)
- Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. (1996) (186)
- Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance (2001) (177)
- Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. (1988) (173)
- Identification of mutations in CUL7 in 3-M syndrome (2005) (169)
- Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 (2004) (165)
- Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome (2010) (165)
- Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. (2004) (161)
- Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity (2011) (144)
- Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. (1999) (142)
- Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation (1999) (140)
- Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma. (2005) (139)
- Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation (1999) (137)
- Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. (2010) (130)
- Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients (2013) (130)
- Molecular-pathogenetic classification of genetic disorders of the skeleton. (2001) (129)
- International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone (1998) (125)
- Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (2013) (123)
- NANS-mediated synthesis of sialic acid is required for brain and skeletal development (2016) (119)
- A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. (2005) (118)
- Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. (2001) (111)
- Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. (2009) (110)
- Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. (2016) (109)
- The painful hip: evaluation of criteria for clinical decision-making (1999) (105)
- Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome (2011) (105)
- Diagnosis and management of glutaric aciduria type I (1998) (103)
- Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (2013) (102)
- Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution (2011) (101)
- Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. (2002) (101)
- Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia (1998) (100)
- Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human (2007) (100)
- FAM111A mutations result in hypoparathyroidism and impaired skeletal development. (2013) (94)
- A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. (1996) (91)
- Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (2011) (90)
- Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter* (1996) (84)
- Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. (2000) (83)
- Identification of CANT1 mutations in Desbuquois dysplasia. (2009) (82)
- Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections (2016) (81)
- Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (2008) (81)
- RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms (2002) (80)
- A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. (1994) (79)
- The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. (2002) (75)
- Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (2006) (74)
- Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W (2003) (74)
- The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene (2005) (74)
- The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals (2012) (73)
- Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations (2010) (72)
- Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2 (2005) (71)
- Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia (1997) (71)
- TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. (2008) (70)
- DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. (2017) (70)
- The dark sides of capillary morphogenesis gene 2 (2012) (69)
- Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features (2010) (69)
- Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis (2012) (68)
- Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. (1998) (67)
- Mutations in two regions of FLNB result in atelosteogenesis I and III (2006) (66)
- Feline Mucopolysaccharidosis VII Due to β-glucuronidase Deficiency (1994) (66)
- CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome (2013) (66)
- Ehlers-Danlos syndrome type VII: clinical features and molecular defects. (1999) (65)
- A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies (2014) (65)
- G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. (1991) (65)
- Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. (2001) (64)
- Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. (2008) (64)
- TRPV4‐associated skeletal dysplasias (2012) (63)
- Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia (2011) (62)
- Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. (2006) (62)
- Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. (2009) (62)
- Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations (2005) (62)
- Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome (2006) (62)
- EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay (2017) (61)
- Propionic acidemia: neonatal versus selective metabolic screening (2012) (61)
- NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina (2015) (60)
- Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome (2015) (60)
- Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome (2015) (60)
- Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family (2010) (60)
- Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia (2015) (59)
- Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia (2007) (58)
- Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double‐layer patella as a reliable sign (2003) (56)
- Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome (2000) (55)
- Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (2008) (55)
- Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA (2005) (54)
- Dominant negative mutations in the C‐propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies (2005) (54)
- Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder (2006) (53)
- Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins (2014) (53)
- Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin). (1993) (52)
- Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy (2004) (51)
- CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome (2017) (51)
- Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. (2016) (50)
- Filamin A mutation is one cause of FG syndrome (2007) (50)
- Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR (1997) (50)
- Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors (2011) (50)
- Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia (1996) (50)
- Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation (2003) (49)
- Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD (2010) (49)
- Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator (2021) (49)
- Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations (2008) (48)
- Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene (2005) (48)
- Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling. (2010) (47)
- Prenatal Diagnosis of Collagen Disorders by Direct Biochemical Analysis of Chorionic Villus Biopsies (1994) (47)
- The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I (1998) (47)
- A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. (1996) (46)
- The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. (2009) (46)
- Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia (2008) (46)
- TRPV4-pathy, a novel channelopathy affecting diverse systems (2010) (45)
- Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA) (2011) (45)
- “Is NF1 a genetic skeletal disorder?”—A response (2007) (44)
- Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. (2013) (44)
- Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. (1998) (44)
- Drug dosing error with drops—severe clinical course of codeine intoxication in twins (2009) (43)
- Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia (2011) (43)
- AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data (2021) (42)
- A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (1995) (41)
- Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". (1998) (41)
- Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases (2009) (41)
- Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata (2008) (40)
- Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. (1991) (39)
- Mutation analysis in 54 propionic acidemia patients (2012) (39)
- Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1 (2004) (39)
- Hypomorphic mutations of TRIP11 cause odontochondrodysplasia (2019) (38)
- A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village (2003) (38)
- CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant (2010) (38)
- Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV (1989) (37)
- Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis (2009) (37)
- Mandibuloacral dysplasia type A in childhood (2009) (37)
- Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. (1997) (37)
- Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomia (2003) (36)
- Mucolipidosis II presenting as severe neonatal hyperparathyroidism (2005) (36)
- Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease) (2005) (36)
- Bone marrow transplantation in cartilage-hair hypoplasia: Correction of the immunodeficiency but not of the chondrodysplasia (1996) (36)
- Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma (2006) (36)
- Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis (2015) (35)
- A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans a (1996) (35)
- Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome (2011) (34)
- CONGENITAL DOPAMINE BETA-HYDROXYLASE DEFICIENCY (1987) (34)
- Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways (2008) (34)
- A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases (2010) (34)
- Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (2011) (33)
- Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule. (1988) (33)
- COL2A1–related skeletal dysplasias with predominant metaphyseal involvement (2007) (32)
- Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view (2019) (31)
- Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". (2017) (31)
- Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4 (2008) (31)
- Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis (2002) (31)
- Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay (2011) (31)
- Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis (2008) (31)
- X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 (2017) (30)
- Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene (2012) (30)
- Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. (2011) (30)
- Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity (2010) (30)
- Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. (1989) (30)
- Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts (2004) (29)
- Sulfate Transport in Chondrodysplasia, a (1996) (29)
- A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations (2003) (29)
- Enchondromatosis revisited: New classification with molecular basis (2012) (28)
- Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. (2009) (28)
- Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen. (1989) (27)
- Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia (2007) (27)
- Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes (2011) (26)
- In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. (2006) (26)
- Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus (1995) (26)
- Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis (2014) (26)
- Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype (2017) (25)
- Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings (2007) (25)
- Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV. (1991) (25)
- Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. (1992) (25)
- BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. (2016) (25)
- Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. (1984) (24)
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene (2019) (24)
- A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. (1991) (24)
- Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. (2015) (23)
- An 11-month-old boy with psychomotor regression and auto-aggressive behaviour (2003) (23)
- Clinical and radiographic delineation of odontochondrodysplasia (2008) (23)
- Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism (2016) (23)
- Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient (2008) (22)
- A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia (2008) (22)
- Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation (2014) (22)
- 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient (2013) (22)
- Achondrogenesis type 1B. (1996) (22)
- Heritable Disorders of Connective Tissues (1990) (21)
- Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome (2004) (20)
- Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity (2017) (20)
- Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. (1983) (20)
- Holt–Oram syndrome associated with anomalies of the feet (2008) (20)
- Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency. (1994) (20)
- Achondroplasia with the FGFR3 1138g→a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father (2000) (20)
- N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. (2015) (20)
- The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. (1996) (20)
- Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report (2010) (20)
- Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci (2013) (20)
- The effect of the N-methyl-D-aspartate receptor antagonist dextromethorphan on perioperative brain injury in children undergoing cardiac surgery with cardiopulmonary bypass: results of a pilot study. (1997) (20)
- Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population (2009) (19)
- Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications (2013) (19)
- Gaucher disease: four families with previously undescribed mutations. (1996) (19)
- Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency (1995) (19)
- Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 children. (1994) (19)
- Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (2013) (19)
- Al‐Awadi–Raas‐Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation (2011) (19)
- In‐Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy (2013) (19)
- A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1 (2010) (19)
- Clinical variability of Stickler syndrome with aCOL2A1 haploinsufficiency mutation: implications for genetic counselling (2000) (18)
- The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type (2007) (18)
- Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country (2014) (18)
- Hypercalciuria and Nephrocalcinosis, a Feature of Wilson’s Disease (1993) (18)
- Progressive pseudorheumatoid dysplasia: a rare childhood disease (2018) (17)
- Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. (2006) (17)
- Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia (1999) (17)
- Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease (2016) (17)
- Phenotypic and Molecular Characterization of Bruck Syndrome ( Osteogenesis Imperfecta With Contractures of the Large Joints ) Caused by a Recessive Mutation in PLOD 2 (2004) (17)
- Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease (1995) (16)
- Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions (1997) (16)
- Natural history and life-threatening complications in Myhre syndrome and review of the literature (2016) (16)
- Multiple sulfatase deficiency with neonatal manifestation (2014) (15)
- Skeletal Dysplasias Related to Defects in Sulfate Metabolism (2003) (15)
- Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria (2009) (15)
- Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. (2000) (15)
- MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type (2014) (14)
- Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population (2011) (14)
- Skeletal Dysplasias Caused by Sulfation Defects (2020) (14)
- Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia (2002) (14)
- Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant (2019) (14)
- Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue (2009) (14)
- Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies (2021) (14)
- CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age (2019) (14)
- Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity (2022) (13)
- Multiple Epiphyseal Dysplasia, Recessive (2014) (13)
- Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation (2005) (13)
- Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome (2013) (13)
- Spondylo‐ocular syndrome: A new entity involving the eye and spine (2006) (13)
- Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia (2012) (13)
- Imperfect Collagenesis in Osteogenesis Imperfecta The Consequences of Cysteine‐Glycine Substitutions upon Collagen Structure and Metabolism a (1988) (12)
- Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. (2019) (12)
- Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. (1991) (12)
- Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution (2003) (11)
- L1CAM mutation in a boy with hydrocephalus and duplex kidneys (2007) (11)
- An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (2020) (11)
- Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. (2010) (11)
- CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations (2021) (11)
- TYPE m COLLAGEN DEFICIENCY (1989) (11)
- Prenatal diagnosis of boomerang dysplasia (2003) (11)
- Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 (2019) (11)
- Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. (2019) (11)
- Microangiopathy in Ehlers-Danlos syndrome type IV. (1992) (11)
- An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta. (1993) (11)
- Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach (2016) (11)
- Severe neurologic manifestations from cervical spine instability in spondylo‐megaepiphyseal‐metaphyseal dysplasia (2012) (10)
- Bone Formation and the Wnt Signaling Pathway. (2016) (10)
- Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. (2003) (10)
- Mutations in ACY 1 , the Gene Encoding Aminoacylase 1 , Cause a Novel Inborn Error of Metabolism (2007) (10)
- Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6 (2019) (10)
- Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation (1991) (10)
- Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature (2020) (10)
- Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. (2010) (10)
- A Diagnostic Approach to Skeletal Dysplasias (2012) (9)
- Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis. (2020) (9)
- Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow‐up (2015) (9)
- Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism (2006) (9)
- DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot) (2002) (9)
- Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. (1998) (9)
- Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria (2009) (9)
- Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics (2020) (9)
- Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location (2005) (8)
- A Chondrodysplasia Family Produced by Mutations in the Diastrophic Dysplasia Sulfate mansporter (1996) (8)
- Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 (2018) (8)
- Axial spondylometaphyseal dysplasia: Additional reports (2011) (8)
- Hyperammonaemic encephalopathy in a 13-year-old boy (2002) (8)
- Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients (2012) (8)
- Gamma-hydroxybutyric acid. (2005) (8)
- A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients (2009) (8)
- Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation (2013) (7)
- The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases (2020) (7)
- A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa (2019) (7)
- Hypomorphic mutations of TRIP 11 cause odontochondrodysplasia (2019) (7)
- Spinal cerebrotendinous xanthomatosis: A case report and literature review (2021) (7)
- Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. (2006) (7)
- Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I. (2010) (7)
- A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: Comment on “A Syndrome of Immunodeficiency, Autoimmunity, and Spondylometaphyseal Dysplasia” by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006] (2007) (7)
- Clostridium perfringens intestinal gas gangrene in a preterm newborn. (2009) (7)
- Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation (2020) (7)
- Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease (2011) (6)
- De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures (2021) (6)
- Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene. (1990) (6)
- Ehlers‐Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation (1996) (6)
- CHAPTER 16 – A Diagnostic Approach to Skeletal Dysplasias (2003) (6)
- New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias (2001) (6)
- Growing bone knowledge (2004) (5)
- Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene (2009) (5)
- Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrhea. (1988) (5)
- Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (5)
- TYPE III COLLAGEN DEFICIENCY (1989) (5)
- Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine. (2021) (5)
- An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Nonimmune Hydrops in a Female Fetus (2009) (5)
- Does the clinical phenotype of mucolipidosis-III&ggr; differ from its &agr;&bgr; counterpart?: supporting facts in a cohort of 18 patients (2019) (5)
- Heterozygosity for a point mutation in COL1A1 causing a R618H substitution in α1(I) chains does not result in Marfan syndrome but may produce mild weakness of connective tissues (1994) (5)
- Delayed Triple‐Helix Formation of Abnormal Type I Collagen Is Corrected by Reduced Temperature (1988) (5)
- Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy (2020) (4)
- Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736) (2006) (4)
- Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly (2013) (4)
- Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration (2021) (4)
- Nosology of genetic skeletal disorders: 2023 revision (2023) (4)
- The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor obscurin-like 1 (2009) (4)
- Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia (2013) (4)
- Correction: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development (2017) (4)
- Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies (2016) (4)
- The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects (2021) (4)
- Mechanism of action of FK 506 and cyclosporin (1991) (4)
- Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene (2021) (4)
- Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. (1986) (4)
- A Familial Case of Achondrogenesis Type II Caused by a Dominant COL 2 A 1 Mutation and ‘ ‘ Patchy ’ ’ Expression in the Mosaic (2007) (4)
- Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas. (2000) (4)
- [Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome]. (2009) (3)
- Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type (2018) (3)
- Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2017) (3)
- A DELETION IN ONE PRO-ALPHA1 (III) COLLAGEN GENE IN EHLERS-DANLOS SYNDROME TYPE IV (1987) (3)
- Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy (2005) (3)
- Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl. (2007) (3)
- Chondrodysplasia Punctata, Brachytelephalangic Type (Mim 302950; 602497) (2012) (3)
- 57 A STRUCTURAL DEFECT OF TYPE III COLLAGEN CAUSING EHLERS-DANLOS SYNDROME TYPE IV (1986) (3)
- Normal Thermal Stability of an Overmodified Type I Collagen Despite a Structural Mutation within the Triple Helical Region in a Case of Osteogenesis Irnperfecta Type IVB a (1988) (3)
- Genetic disorders of bone - An historical perspective. (2017) (3)
- CHST3-related skeletal dysplasia (2011) (3)
- The multiple faces of artwork diagnoses (2017) (3)
- Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis (2021) (3)
- CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures (2021) (2)
- An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum (2012) (2)
- Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II. (2009) (2)
- A HaeIII RFLP in COL1A1. (1990) (2)
- Natural history of KBG syndrome in a large European cohort (2022) (2)
- A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. (2018) (2)
- O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum (2021) (2)
- Dysostosis Multiplex: Complex Carbohydrate Storage Diseases (2012) (2)
- Novel findings in two patients with late‐diagnosed afibrinogenaemia: intraosseous haemorrhage and fingertip necrosis (2009) (2)
- A Novel Talin-to-RhoA Switch Mechanism Upon Ligand Binding of the Collagen VI Receptor CMG2 (2018) (2)
- Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A (2021) (2)
- Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome. (2022) (2)
- LWPES/ESPE 8th Joint Meeting Global Care in Pediatric Endocrinology in collaboration with APEG, APPES, JSPE and SLEP. New York, N.Y., USA, September 9–12, 2009 (2009) (2)
- Phenotypic variability in biotinidasedeficiency (1984) (2)
- Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual (2018) (2)
- Asphyxiating Thoracic Dysplasia (Mim 208500) (2012) (2)
- Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders (2021) (2)
- Mucopolysaccharidoses and Oligosaccharidoses (2018) (1)
- Molecular pathogenic basis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP 13 proteins (2014) (1)
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges (2021) (1)
- Kniest Dysplasia: Clinical, Pathologic, and Molecular Findings in a Severely Affected Patient–And Review of the Literature (1998) (1)
- Prenatal Diagnosis of Disorders of Bone and Connective Tissue (2010) (1)
- Atelosteogenesis Type 2 (2014) (1)
- A 17-month-old boy with bowed legs (2000) (1)
- Cancer surveillance in children with Ollier Disease and Maffucci Syndrome (2021) (1)
- Significant clinical benefits of molecular studies in the skeletal dysplasias (2015) (1)
- Psychological adjustment and quality of life in children and adolescents with early treated phenylketonuria (1999) (1)
- Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy (2021) (1)
- Classical homocystinuria, is it safe to exercise? (2021) (1)
- Osteoclast Morphology in Autosomal Recessive Malignant Osteopetrosis Due To a TCIRG1 Gene Mutation (2003) (1)
- Microcephaly and maternal phenylketonuria (1996) (1)
- Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder? (1989) (1)
- Gaucher Disease and Bone Manifestations (2020) (1)
- Metaphyseal Dysplasia, Schmid Type (Mim 156500) (2012) (1)
- Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features (2022) (1)
- The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation. (2022) (1)
- Type III collagen deficiency. (1989) (1)
- Multiple Cartilaginous Exostoses (MIM 133700) (2012) (1)
- Child (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) Syndrome (Mim 308050) (2012) (1)
- A Defect intheMetabolic Activation ofSulfate inaPatient with Achondrogenesis TypeIB (1994) (1)
- Table 1. [Summary of Molecular Genetic Testing Used in Diastrophic Dysplasia]. (2013) (1)
- In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening. (2023) (1)
- Role of Centriolar Proteins in Skeletal Ciliopathies (2014) (1)
- Current themes in molecular pediatrics: molecular medicine and its applications (2010) (1)
- Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia (2000) (1)
- Elevated lactate in Mauriac syndrome: still a mystery (2021) (1)
- Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants (2021) (1)
- Radiological “metamorphosis” in a patient with severe congenital osteogenesis imperfecta (1990) (1)
- Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (1)
- Schimke Immunoosseous Dysplasia (MIM 242900) (2012) (0)
- Cousin Dysplasia (Mim 260660) (2012) (0)
- Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders (2015) (0)
- The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands (2019) (0)
- Catel-Manzke Syndrome (Mim 302380) (2012) (0)
- Omenn Syndrome with Metaphyseal Chondrodysplasia (Mim 200900; 603554) (2012) (0)
- Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias (2018) (0)
- Figure 3. [Mild platyspondyly is observed. Note also the coronal clefts throughout the lumbar region.]. (2011) (0)
- Identification of Disease Gene for Camurati-Engelmann Disease, Type II (2022) (0)
- Figure 2. [Mutation-proven “acampomelic” campomelic dysplasia A...]. (2013) (0)
- Mesomelic Dysplasia, Kantaputra Type (MIM 156232) (2012) (0)
- Polytopic Dysostoses (2018) (0)
- Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia. (2022) (0)
- Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis (DOI: 10.1016/j.ajhg.2008.05.006) (2008) (0)
- Fructose Intolerance, Hereditary (2020) (0)
- Hereditary Rickets (Mim 307800, 193100, 241520, 613312, 241530, 264700, 600081, 277440, 600785) (2012) (0)
- Mesomelic Dysplasia, Werner Type (Mim 135750; 174500; 188740; 188770) (2012) (0)
- Dysplasia Epiphysealis Hemimelica (MIM 127800) (2012) (0)
- Endosteal Hyperostosis, Van Buchem Type (Mim 239100, 269500) (2012) (0)
- Cole-Carpenter Syndrome (Mim 112240) (2012) (0)
- Metaphyseal Chondromatosis with 2-Hydroxyglutaric Aciduria (2012) (0)
- Deficiencies offibrillin anddecorin infibroblast cultures ofapatient withneonatal Marfan syndrome (1992) (0)
- Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (MIM 609223) (2012) (0)
- Pachydermoperiostosis, Autosomal Recessive (Mim 259100) (2012) (0)
- Syndrome of the month Achondrogenesis type 1B (0)
- Spinal Cerebrotendinous Xanthomatosis: An Easily Overlooked Treatable Disorder (2020) (0)
- Punctate Calcification Group (2018) (0)
- Correction to: Elevated lactate in Mauriac syndrome: still a mystery (2021) (0)
- [Table, GeneReview Scope]. (2013) (0)
- Short Rib (-Polydactyly) Syndrome, Beemer-Langer Type (Mim 269860) (2012) (0)
- Craniosynostosis Syndromes (2018) (0)
- The skeletal effect of post-natal treatment with N-acetylcysteine in a diastrophic dysplasia mouse model (2021) (0)
- Acromesomelic and Acromelic Dysplasias/Dysostoses (2018) (0)
- Craniometaphyseal Dysplasia (Mim 123000; 218400) (2012) (0)
- Figure 1. [Cervical spine changes (i.e., abnormal...]. (2013) (0)
- Spondylocostal Dysostoses (2018) (0)
- Dysplasias with Predominant Metaphyseal Involvement (2018) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Atelosteogenesis Type 2]. (2014) (0)
- Acromicric Dysplasia (Mim 102370) (2012) (0)
- Sulfate Transporter Group (2012) (0)
- [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]. (2020) (0)
- Gnathodiaphyseal Dysplasia (Mim 166260) (2012) (0)
- Disorders with Defective Joint Formation (2018) (0)
- Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant B (2019) (0)
- P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation (2019) (0)
- Marshall-Smith Syndrome (MIM 602535) (2012) (0)
- Chondrodysplasia Punctata Conradi-Hünermann Type (MIM 302960) (2012) (0)
- Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies (2021) (0)
- Mesomelic Dysplasia, Nievergelt-Savarirayan Type (Mim 163400; 605274) (2012) (0)
- Aggrecan-Associated Skeletal Dysplasias (MIM 608361, 612813) (2012) (0)
- Osteogenesis Imperfecta and Other Disorders with Decreased Bone Density (2018) (0)
- Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases (2011) (0)
- Osteopathia Striata with Cranial Sclerosis (Mim 300373) (2012) (0)
- Major Clinical Findings (2012) (0)
- Mainzer-Saldino Syndrome (Mim 266920) (2012) (0)
- Neonatal Severe Primary Hyperparathyroidism (Mim 239200) (2012) (0)
- “Cerebral” lactic acidosis and cerebrospinal fluid pH (1988) (0)
- Figure 3. [Classic radiographic features of campomelic...]. (2013) (0)
- Mandibuloacral Dysplasia (MIM 248370; 608612) (2012) (0)
- Infantile systemic hyalinosis presenting as multiple join pain (2011) (0)
- Figure 1. [Hand of a newborn with...]. (2013) (0)
- Osteogenic transdifferentiation as ideal in vivo model for inherited hypomyelination with spondylometaphyseal dysplasia (H-SMD) (2017) (0)
- Chondrodysplasia with joint dislocations, gPAPP type (2012) (0)
- Overweight and obesity in adult patients with phenylketonuria: a systematic review (2023) (0)
- Rhizo-Mesomelic Dysplasias (2018) (0)
- Hypophosphatasia (Mim 146300, 241500) (2012) (0)
- Biotinidase deficiency: What have we learned in forty years? (2023) (0)
- Langer Mesomelic Dysplasia (Mim 249700) (2012) (0)
- Campomelic Dysplasia (Mim 211990, 114290) (2012) (0)
- Craniodiaphyseal Dysplasia (Mim 112860, 218300) (2012) (0)
- Clinical variability ofosteogenesis toCOL1A2andassociated witha imperfecta linked structural defect inthetypeIcollagen molecule (1989) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Campomelic Dysplasia]. (2013) (0)
- AB1035 MAFB-VARIANTS IN MULTICENTRIC CARPOTARSAL OSTEOLYSIS WITH NEPHROPATHY DO NOT SEEM TO AFFECT SERUM C1Q CONCENTRATION (2019) (0)
- Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (0)
- Other Metabolic Disorders (2003) (0)
- [Next generation sequencing : a diagnostic tool for inherited immune defects]. (2017) (0)
- [Rare vascular diseases, building dedicated multidisciplinary specialized center]. (2017) (0)
- [The transition from pediatric care to the doctor and that of the adult, or the importance of "bridging the gap"]. (2015) (0)
- Multiple Epiphyseal Dysplasias, Autosomal Dominant (MIM 132400, 600204, 600969, 607078) (2012) (0)
- Cono‐spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder (2014) (0)
- [Preimplantation genetic testing: legal and ethical aspects in clinical practice]. (2019) (0)
- Short Rib (-Polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff Types (MIM 263530, 263510) (2012) (0)
- Chondrodysplasia Punctata, Rhizomelic Type (Mim 215100, 222765, 600121) (2012) (0)
- Short-Rib (±Polydactyly) Dysplasias (2018) (0)
- A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia (2021) (0)
- Identification of subtelomere rearrangements in patients with idiopathic mental retardation (2008) (0)
- TYPE 11 COLLAGEN GROUP (2012) (0)
- Chondrodysplasia Punctata, Autosomal Dominant Type (Mim 118650; 215105) (2012) (0)
- Cumming Dysplasia (Mim 211890) (2012) (0)
- The electroencephalographic diagnosis of inborn errors of metabolism in the newborn: 3 examples (1997) (0)
- Figure 1. [A newborn with molecularly confirmed...]. (2011) (0)
- Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics (2020) (0)
- Pachydermoperiostosis, Autosomal Dominant (Mim 167100) (2012) (0)
- Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations (2018) (0)
- Collagen Type 1 and Osteogenesis Imperfecta (2020) (0)
- SCN5A Overlap Syndromes: an open-minded approach. (2022) (0)
- Trichodentoosseous Dysplasia (Mim 190320) (2012) (0)
- When Materials Are at Fault: The Skeletal Collagens, Osteogenesis Imperfecta and Chondrodysplasias (2019) (0)
- Cherubism (MIM 118400) (2012) (0)
- Diaphyseal Medullary Stenosis with Bone Malignancy (Mim 112250) (2012) (0)
- Clinical variability of osteogenesis to COL1A2 and associated with a imperfecta linked structural defect in the type I collagen molecule (0)
- Metaphyseal Dysplasia, Spahr Type (Mim 250400) (2012) (0)
- [Early-onset generalized polyarthritis (Stickler syndrome)]. (2002) (0)
- Enchondromatosis (Ollier Disease) (MIM 166000) (2012) (0)
- Hereditary Fructose Intolerance (2018) (0)
- Kenny-Caffey syndrome (Mim 244460 [Type I]; 127000 [Type 2]) (2012) (0)
- Progressive Pseudorheumatoid Chondrodysplasia (Mim 208230) (2012) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in CHST3-Related Skeletal Dysplasia]. (2011) (0)
- Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl (2011) (0)
- Carpenter Syndrome (MIM 201000) (2012) (0)
- Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (Smmd) (Mim 613330) (2012) (0)
- Fibrodysplasia Ossificans Progressiva (MIM 135100) (2012) (0)
- Overgrowth/Accelerated Skeletal Maturation Syndromes (Selected) (2018) (0)
- Spondyloepimetaphyseal Dysplasia with Leptodactyly (Mim 603546) (2012) (0)
- Odontochondrodysplasia (Mim 184260) (2012) (0)
- Image (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies) Syndrome (Mim 300290) (2012) (0)
- Progressive Osseous Heteroplasia (MIM 166350) (2012) (0)
- [Advances in the treatment of complex venous malformation: endovenous laser]. (2020) (0)
- [Why does knowledge on rare diseases allow progress in treatments?]. (2012) (0)
- Angel-Shaped Phalangoepiphyseal Dysplasia (MIM 105835) (2012) (0)
- Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400) (2012) (0)
- mutation R 279 W DTDST homozygotes for ( rMED ) : phenotype delineation in eighteen Recessive multiple epiphyseal dysplasia (2002) (0)
- Spondyloocular Dysplasia (Mim 605822) (2012) (0)
- Long-Term Study of a Patient with Alacrimia, Achalasia and Adrenal Insufficiency (1987) (0)
- Femoral Hypoplasia-Unusual Facies Syndrome (FHUFS) (MIM 134780) (2012) (0)
- New topics in the skeletal dysplasias (2012) (0)
- Disorders Caused by Disorganization of Skeletal Constituents (2018) (0)
- Filamin A Group (2012) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Achondrogenesis Type 1B]. (2013) (0)
- Hypomorphic mutations of TRIP11 cause (2019) (0)
- Multicentric Carpal-Tarsal Osteolysis (MIM 166300) (2012) (0)
- Progeria (MIM 176670) (2012) (0)
- Eiken Dysplasia (Mim 600002) (2012) (0)
- Characterization of Large Deletions in the Pro‐α1(III) mRNA from Two Ehlers‐Danlos Type IV Patients a (1990) (0)
- A New Neurodegenerative Disease of Childhood (2018) (0)
- Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity (vol 89, pg 769, 2011) (2012) (0)
- Cerebrocostomandibular Syndrome (MIM 117650) (2012) (0)
- Complex cranio-vertebral malformation: disruption sequence or iniencephaly? (2018) (0)
- Poland Syndrome (MIM 173800) (2012) (0)
- Grebe Dysplasia (MIM 200700, 201250, 228900) (2012) (0)
- Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin (2020) (0)
- TRIP11 is essential for skeletal development (2008) (0)
- Cleidocranial Dysplasia (Mim 119600) (2012) (0)
- Nail-Patella Syndrome (Mim 161200) (2012) (0)
- - 1-NANS-mediated synthesis of sialic acid is required for brain and skeletal 1 development (2020) (0)
- [News in paediatrics]. (2016) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Multiple Epiphyseal Dysplasia, Recessive]. (2014) (0)
- [Respiratory tract infections in childhood: what's our status in 2016?]. (2016) (0)
- Familial syndrome of infantile polycythemia with markedly elevated erythropoietin, severe pulmonary hypertension, and intrapulmonary hematopoiesis - an “inappropriate” hypoxic response? (1999) (0)
- Blomstrand Chondrodysplasia (Mim 215045) (2012) (0)
- Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy (2020) (0)
- Obituary for Claude Bachmann, MD (1941-2022). (2022) (0)
- MOLECULAR PATHOLOGY OF SKELETAL DEVELOPMENT (2002) (0)
- Table 2. [SOX9 Allelic Variants Discussed in This GeneReview]. (2013) (0)
- SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland (2023) (0)
- Pfeiffer Syndrome (Mim 101600) (2012) (0)
- Spondylometaphyseal Dysplasia, Sutcliffe/Corner Fracture Type (Mim 184255) (2012) (0)
- Greenberg Dysplasia/Dappled Diaphyseal Dysplasia (Mim 215140) (2012) (0)
- Albright Hereditary Osteodystrophy (Mim 103580, 600430, 612462, 612463) (2012) (0)
- Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly (2021) (0)
- The deletion of six amino acids at the C-terminus of the ocl (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest (0)
- Genochondromatosis (MIM 137360) (2012) (0)
- Trichorhinophalangeal Syndrome, Type II (Mim 150230) (2012) (0)
- [Progress in the management of psychosocial problems in pediatrics]. (2013) (0)
- Clostridium perfringens intestinal gas gangrene in a preterm newborn (2008) (0)
- Chondrodysplasia Punctata, Tibia-Metacarpal Type (Mim 118651) (2012) (0)
- Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency (GDD) 859 (1996) (0)
- Infantile Systemic Hyalinosis and Juvenile Hyaline Fibromatosis (MIM 228600, 236490) (2012) (0)
- Limb Aplasias and Hypoplasias (Selected) (2018) (0)
- Geleophysic Dysplasia (Mim 231050) (2012) (0)
- Deletion of Two Contiguous Genes, Platelet GPIbβ (Glycoprotein Ibβ) and Septin SEPT5, in a Boy with Bernard-Soulier Syndrome and Developmental Delay: A Possible New Contiguous Gene Syndrome. (2006) (0)
- Marfan syndrome . fibroblast cultures of a patient with neonatal Deficiencies of fibrillin and decorin in (0)
- Mutations in capillary morphogenesis protein 2 cause hyaline deposition disorders (2003) (0)
- Familial Digital Arthropathy with Brachydactyly (Mim 606835) (2012) (0)
- Cranioectodermal Dysplasia (Mim 218330) (2012) (0)
- Oculodentoosseous Dysplasia (Mim 164200) (2012) (0)
- Collagen Based Tubular Structures for Urethral Repair in a Rabbit Model (2015) (0)
- Rhizomelic/Mesomelic Dysplasias (Mim 127300) (2012) (0)
- Figure 2. [Note the conspicuous increase in...]. (2011) (0)
- Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias (2018) (0)
- Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3. (2023) (0)
- Dysorders with Defective Mineralization (2018) (0)
- Achondroplasia and Related FGFR3 Conditions (2018) (0)
- Pseudoachondroplasia and Dominant Epiphyseal Dysplasia (2018) (0)
- Clouds over IEMs? Perspectives for Inborn Errors of Metabolism in adults from a retrospective cohort studies in two Swiss adult metabolic Clinics (2020) (0)
- Mesomelic Dysplasia with Acral Synostoses (Mim 600383) (2012) (0)
- MICROCEPHALY AND MATERNAL PHENYLKETONURIA. AUTHORS' REPLY (1996) (0)
- Osteoglophonic Dysplasia (MIM 166250) (2012) (0)
- Fibrous Dysplasia (Mim 174800) (2012) (0)
- [Does prematurity affect adulthood?]. (2014) (0)
- Cinca (Chronic Infantile Neurologic Cutaneous and Articular) Syndrome (Mim 607115) (2012) (0)
- Figure 2. [Radiograph of the hand of...]. (2013) (0)
- Osteopetrosis, Ectodermal Dysplasia, Immune Defect (Mim 300301) (2012) (0)
- Osteoblast N-Cadherin Restrains Wnt /-Catenin Signalling and the Osteo-Anabolic Effect of Dkk 1 Inhibition (2015) (0)
- Pseudoachondroplasia (Mim 177170) (2012) (0)
- Figure 1. [Double patellaBallhausen et al [2003]; reprinted with permission from the BMJ Publishing Group]. (2014) (0)
- 88 MATERNAL PKU SYNDROME IN COUSINS CAUSED BY MILD, UNRECOGNIZED PHENYLKETONURIA IN THEIR MOTHERS HOMOZYGOUS FOR THE PHENYLALANINE HYDROXYLASE 261 ARG – GLN MUTATION (1990) (0)
- Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects (2018) (0)
- Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (Mim 608940) (2012) (0)
- Table 2. [SLC26A2 Variants Discussed in This GeneReview]. (2014) (0)
- X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 (2017) (0)
- Juvenile Idiopathic Osteoporosis (Mim 259750) (2012) (0)
- Filamin-Associated Dysplasias/Dysostoses and Related Disorders (2018) (0)
- GHOSAL HEMATODIAPHYSEAL DYSPLASIA (MIM 231095) (2012) (0)
- Chondrodysplasia with Joint Luxations, Chst3-Related (Mim 143095) (2012) (0)
- Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type (Mim 271665) (2012) (0)
- Skeletal Dysplasias: Genetics (2006) (0)
- Short Rib (-Polydactyly) Syndrome, Majewski Type (Mim 263520) (2012) (0)
- Multiple Synostoses Syndrome (Syns) and Proximal Symphalangism (Sym) (Mim 186500; 610017; 185800) (2012) (0)
- SOMATIC MUTATIONS IN THE KREBS CYCLE ENZYME ISOCITRATE DEHYDROGENASE 1 (IDH1) CAUSE METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA (2012) (0)
- Atelosteogenesis type I: Lack of evidence for a sulfate transport disorder. (1997) (0)
- Jarcho-Levin Syndrome (MIM 277300) (2012) (0)
- Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders (2018) (0)
- The Bone in Genetic and Metabolic Diseases: A Practical Approach (2017) (0)
- Acromesomelic Dysplasia, Maroteaux Type (Mim 602875) (2012) (0)
- Metaphyseal Acroscyphodysplasia (Mim 250215; 609990; 609989) (2012) (0)
- Calvarial Doughnut Lesions-Osteoporosis Syndrome (Mim 126550) (2012) (0)
- Achondrogenesis Type 1A (Mim 200600) (2012) (0)
- Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 (Mim 210720) (2012) (0)
- Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother. (2023) (0)
- Osteoectasia with Hyperphosphatasia (Mim 239000) (2012) (0)
- Unusual clinical features in a patient with autosomal recessive form of multiple epiphyseal dysplasia extending the phenotype of this entity (2005) (0)
- Hajdu-Cheney Osteolysis (MIM 102500) (2012) (0)
- Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 (Mim 210710, 210730) (2012) (0)
- Sclerosteo-Cerebellar Syndrome (Mim 213002) (2012) (0)
- Ischiopatellar Dysplasia (Mim 147891) (2012) (0)
- Brachyolmia, Autosomal Recessive (Mim 271530, 271630) (2012) (0)
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene (2019) (0)
- Axial Spondylometaphyseal Dysplasia (Mim 602271) (2012) (0)
- [46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]. (1997) (0)
- Ectrodactyly -Ectodermal Dysplasia-Cleft Lip/Palate Syndrome and Isolated Ectrodactyly (Mim 129900; 604292; 119100; 313350; 600095; 605289; 603273; 225300) (2012) (0)
- In memoriam Claude Bachmann 1941-2022 (2022) (0)
- Dense Bone Dysplasias with Normal Bone Shape (2018) (0)
- Omodysplasia, Autosomal Recessive (MIM 258315, 251455, 268250) (2012) (0)
- Disorders with Prenatal Short Stature and Slender Bones (2018) (0)
- Mesomelic Dysplasia, Reardon-Kozlowski Type (MIM 249710) (2012) (0)
- Spondyloepimet Aphyseal Dysplasia with Joint Laxity (Mim 271640) (2012) (0)
- Metaphyseal Dysplasia, Jansen Type (Mim 156400) (2012) (0)
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