Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

@article{Briggs1995PseudoachondroplasiaAM,
  title={Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene},
  author={Michael D. Briggs and S F Hoffman and Lily M. King and Anne S. Olsen and Harvey Mohrenweiser and Jules Gerard Leroy and Geert R. Mortier and David L. Rimoin and Ralph S. Lachman and Elizabeth Gaines and J. A. Cekleniak and Robert G. Knowlton and Daniel H Cohn},
  journal={Nature Genetics},
  year={1995},
  volume={10},
  pages={330-336}
}
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early–onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19. Recently the gene for cartilage oligomeric matrix protein (COMP) was localized to chromosome 19p13.1. In three patients with these diseases, we identified COMP mutations in a region of the… CONTINUE READING
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