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...

Full description

Bibliographic Details
Main Authors: Jackson, Gail C, Marcus-Soekarman, Dominique, Stolte-Dijkstra, Irene, Verrips, Aad, Taylor, Jacqueline A, Briggs, Michael D
Format: Online
Language:English
Published: Wiley Subscription Services, Inc., A Wiley Company 2010
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557369/