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Article

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Human genetics - 1 Nov 2005

Miyamoto Yoshinari, Nakashima Eiji, Hiraoka Hisatada, Ohashi Hirofumi, Ikegawa Shiro

Abstract excerpt

Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a skeletal dysplasia characterized by severe sensorineural hearing loss, enlarged epiphyses and early onset of osteoarthritis. COL11A2 has been reported as a causative gene for OSMED. We have identified a novel COL2A1 mutation at a splice-acceptor...

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PMID: 16189708
DOI: 10.1007/s00439-005-0058-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16189708-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.PMID 16189708Read ↗

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