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

@inproceedings{Jackson2010TypeIC,
  title={Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy},
  author={G. Cole Jackson and Dominique Marcus-Soekarman and Irene Stolte-Dijkstra and Aad Verrips and Jacqueline A. Taylor and Michael D. Briggs},
  booktitle={American journal of medical genetics. Part A},
  year={2010}
}
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 protein, and matrilin-3: COL9A1, COL9A2, COL9A3, COMP, and MATN3, respectively. Splicing mutations have been identified in all three genes encoding type IX collagen and are restricted to specific exons… CONTINUE READING

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