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

@article{Chapman2001MutationsIT,
  title={Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia},
  author={Kathryn L. Chapman and Geert R. Mortier and Kay Chapman and John Loughlin and Michael E. Grant and Michael D. Briggs},
  journal={Nature Genetics},
  year={2001},
  volume={28},
  pages={393-396}
}
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. 4–13). These dominant forms of MED (EDM1–3) are caused by mutations in the genes encoding structural… CONTINUE READING