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Article

COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child.

Joint bone spine - 1 Jan 2014

Lankisch Petra, Hönscheid Andrea, Schaper Jörg, Borkhardt Arndt, Laws Hans-Jürgen

Abstract excerpt

Diagnostic assessment of osteoarthritis in children and adolescents is difficult. Here, we report the sixth family with a COL2A1 mutation R275C. The index patient, her mother and her three brothers had severe coxarthrosis, in some cases requiring surgery. Only the mother was hard of hearing, and...

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Identifiers

PMID: 23928235
DOI: 10.1016/j.jbspin.2013.06.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23928235-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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