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Role of TSP-5/COMP in Pseudoachondroplasia

✍ Scribed by Karen L. Posey; Elizabeth Hayes; Richard Haynes; Jacqueline T. Hecht


Book ID
116306717
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
347 KB
Volume
36
Category
Article
ISSN
1357-2725

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Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in COMP