Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease that is characterized by mild short stature and early onset osteoarthritis. Autosomal dominant forms are caused by mutations in the genes that encode type IX collagen, cartilage oligomeric matrix prote...

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Detalhes bibliográficos
Main Authors: Jackson, Gail C, Marcus-Soekarman, Dominique, Stolte-Dijkstra, Irene, Verrips, Aad, Taylor, Jacqueline A, Briggs, Michael D
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2010
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3557369/
https://ncbi.nlm.nih.gov/pubmed/20358595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33240
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