Article
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Arthritis and rheumatism - 15 Dec 2004
Löppönen Tuija, Körkkö Jarmo, Lundan Tuija, Seppänen Ulpu, Ignatius Jaakko, Kääriäinen Helena
Abstract excerpt
OBJECTIVE: To define the clinical, radiologic, and molecular genetic characteristics of a family with early progressive osteoarthritis mimicking childhood rheumatoid arthritis, Scheuermann-like changes of the spine, tall stature, short 3 and 4 metatarsals, and moderate sensorineural hearing loss. METHODS: We describe a 22-year-old woman and her 54-year-old mother with early progressive osteoarthritis mimicking...
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