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Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.

Seminars in arthritis and rheumatism - 1 Aug 2014

Rukavina Iva, Mortier Geert, Van Laer Lut, Frković Marijan, Đapić Tomislav, Jelušić Marija

Abstract excerpt

OBJECTIVE: To define the clinical, radiologic and molecular characteristics of a patient with early progressive osteoarthritis and mild spondyloepiphyseal dysplasia. METHODS: We describe an 18-year-old girl with early progressive osteoarthritis and mild spondyloepiphyseal dysplasia. The index case underwent a physical examination, anthropometric measurements and radiologic and laboratory studies. DNA of the...

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PMID: 24681029
DOI: 10.1016/j.semarthrit.2014.03.003

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Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.PMID 24681029Read ↗

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