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

✍ Scribed by Briggs, M.D.; Hoffman, S.M.G.; King, L.M.; Olsen, A.S.; Mohrenweiser, H.; Leroy, J.G.; Mortier, G.R.; Rimoin, D.L.; Lachman, R.S.; Gaines, E.S.

Book ID: 109916474
Publisher: Nature Publishing Group
Year: 1995
Tongue: English
Weight: 853 KB
Volume: 10
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0795-330

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## Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are allelic disorders caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP) . PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoart