Osteochondrodysplasia: A Heritable Disorder
, 2019 {"references": ["1. Krakow D1, Alanay Y, Rimoin LP, Lin V, Wilcox WR,", "Lachman RS, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 1;146A(15):1917-24. 2. Krakow D, Lachman RS, Rimoin DL.
Saurabh Mishra,, GS Rai
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Bone dysplasia with optic atrophy, vascular malformation and seizures in a 14-year-old girl : a case report [PDF]
, 2007 Background: The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous group of disorders associated with abnormal shape, growth, or integrity of bones. Osteopetrosis is a collective term for a range of sclerosing bone diseases
Augustyn, Danuta +5 more
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Osteochondrodysplasia in three Scottish Fold cats
Journal of Veterinary Science, 2007 This report explains typical radiographic features of Scottish Fold osteochondrodysplasia. Three Scottish Fold cats suffering from lameness were referred to the Veterinary Medical Teaching Hospital, Seoul National University, Korea. Based on the breed predisposition, history, clinical signs, physical examination, and radiographic findings, Scottish ...
Chang, Jinhwa +8 more
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Osteogenesis imperfecta: pathogenesis, classification, and treatment [PDF]
Osteogenesis imperfecta (OI) is a congenital skeletal disorder characterized by varying degrees of bone fragility and deformities. Extraskeletal manifestations, such as blue sclera, dentinogenesis imperfecta, growth disturbance, hearing impairment, and ...
Hasegawa, Kosei
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The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study. [PDF]
Orphanet J Rare Dis, 2023 Kolambage YD +4 more
europepmc +2 more sources
Joint Space Widening in Multiple Epiphyseal Dysplasia. [PDF]
Dtsch Arztebl Int, 2023 Madry H.
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The human COL9A3 gene : Structure of the gene for the α3 chain of type IX collagen and its role in human cartilage and intervertebral disc diseases [PDF]
, 1999 The nucleotide sequence of the entire COL9A3 gene, coding for the human α3(IX) chain, was determined. The gene was approximately 23 kb in length and consisted of 32 exons.
Paassilta, Petteri
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Sox10 regulates enteric neural crest cell migration in the developing gut [PDF]
, 2013 Concurrent Sessions 1: 1.3 - Organs to organisms: Models of Human Diseases: abstract no. 1417th ISDB 2013 cum 72nd Annual Meeting of the Society for Developmental Biology, VII Latin American Society of Developmental Biology Meeting and XI Congreso de la ...
Leung, C, Sham, MH, Sit, HM, Zhang, M
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Analysis of craniofacial defects in Six1/Eya1-associated Branchio-Oto-Renal Syndrome [PDF]
, 2013 Poster Session I - Morphogenesis: 205/B10117th ISDB 2013 cum 72nd Annual Meeting of the Society for Developmental Biology, 7th Latin American Society of Developmental Biology Meeting and 11th Congreso de la Sociedad Mexicana de Biologia del Desarrollo ...
Sham, MH +4 more
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São Paulo Medical Journal, 2013 CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório +6 more
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