COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child
Author:
Publisher
Elsevier BV
Subject
Rheumatology
Reference11 articles.
1. The Hip;Sankar,2011
2. The phenotypic spectrum of COL2A1 mutations;Nishimura;Hum Mutat,2005
3. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene;Hoornaert;J Med Gen,2006
4. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies;Zankl;Am J Med Genet Part A,2005
5. Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review;Husar-Memmer;Semin Arthritis Rheum,2013
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