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Pseudoachondroplasia/COMP — translating from the bench to the bedside

2 Jun 2014

Abstract excerpt

Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. PSACH is caused by mutations in thrombospondin-5 (TSP-5, also known as cartilage oligomeric matrix protein or COMP), a pentameric extracellular matrix protein primarily expressed in chondrocytes and musculoskeletal tissues. The thrombospondin...

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PMID: 24892720
DOI: 10.1016/j.matbio.2014.05.006

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