Article
Premature arthritis is a distinct type II collagen phenotype.
Arthritis and rheumatism - 1 May 2010
Kannu Peter, Bateman John F, Randle Susan, Cowie Shannon, du Sart Desiree, McGrath Shaun, Edwards Matthew, Savarirayan Ravi
Abstract excerpt
Mutations in the gene encoding type II collagen (COL2A1) give rise to a spectrum of phenotypes predominantly affecting cartilage and bone. These chondrodysplasias are typically characterized by disproportionately short stature, eye abnormalities, cleft palate, and hearing loss. It is less recognized that mutations in COL2A1 can also present as degenerative joint disease in the absence of any other phenotypic...
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