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Article

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.

The Journal of rheumatology - 1 May 2008

Avcin Tadej, Makitie Outi, Susic Miki, Miller Stephen, Thorne Carter, Tenenbaum Jerry, Laxer Ronald M, Cole William G

Abstract excerpt

OBJECTIVE: To evaluate an approach to the clinical, radiographic, and molecular diagnosis of an underlying skeletal dysplasia in adults presenting with early-onset polyarticular osteoarthritis (OA). METHODS: We identified a family with 2 adults with polyarticular OA and a child with generalized arthralgia. General, musculoskeletal, ocular, and auditory evaluations were undertaken. Investigations included...

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PMID: 18381781

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.PMID 18381781Read ↗

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