Article
Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
The Journal of rheumatology - 1 Jun 2006
Carlson Kerri M, Yamaga Karen M, Reinker Kent A, Hsia Yujen E, Carpenter Clyde, Abe Lucienne M, Perry Andrea K, Person Donald A, Marchuk Douglas A, Raney Ellen M
Abstract excerpt
OBJECTIVE: To examine the genotypic and phenotypic characteristics of a Micronesian kindred with autosomal dominant precocious osteoarthritis (OA). METHODS: We reviewed records and radiographs of 3 index patients and their parents, administered questionnaires to 16 additional kindred members, performed whole-genome scans of 24 family members, and sequenced relevant genes from 16 family members. RESULTS: The...
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