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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

✍ Scribed by Michael D. Briggs; Geert R. Mortier; William G. Cole; Lily M. King; Steven S. Golik; Jacky Bonaventure; Lieve Nuytinck; Anne De Paepe; Jules G. Leroy; Leslie Biesecker; Mark Lipson; William R. Wilcox; Ralph S. Lachman; David L. Rimoin; Robert G. Knowlton; Daniel H. Cohn

Book ID: 117852289
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 679 KB
Volume: 62
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301713

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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