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Letter

Nature Genetics 28, 393–396 (1 August 2001) | doi:10.1038/ng573

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Kathryn L. Chapman , Geert R. Mortier , Kay Chapman , John Loughlin , Michael E. Grant & Michael D. Briggs

Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. Mutations in the genes encoding cartilage oligomeric matrix protein (COMP) and type IX collagen (COL9A2 and COL9A3) have previously been shown to cause different forms of MED (refs.