Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

@article{Briggs1998DiverseMI,
  title={Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.},
  author={Michael D. Briggs and Geert R. Mortier and William G. Cole and Lily M. King and Sergey Golik and Jacky Bonaventure and Lieve Nuytinck and Anne De Paepe and Jules Gerard Leroy and Les Biesecker and Mark Lipson and William R Wilcox and Ralph S. Lachman and David L. Rimoin and Robert G. Knowlton and Daniel H Cohn},
  journal={American journal of human genetics},
  year={1998},
  volume={62 2},
  pages={311-9}
}
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310 [http://www3.ncbi.nlm. nih.gov:80/htbin-post/Omim/dispmim?600310]). We report the identification of COMP mutations in an additional 14 families with PSACH or MED phenotypes… CONTINUE READING