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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Detalles Bibliográficos
Autores principales: Jackson, Gail C, Marcus-Soekarman, Dominique, Stolte-Dijkstra, Irene, Verrips, Aad, Taylor, Jacqueline A, Briggs, Michael D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557369/
https://www.ncbi.nlm.nih.gov/pubmed/20358595
http://dx.doi.org/10.1002/ajmg.a.33240

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