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Article

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.

American journal of medical genetics. Part A - 15 Jan 2005

Nakashima Eiji, Kitoh Hiroshi, Maeda Koichi, Haga Nobuhiko, Kosaki Rika, Mabuchi Akihiko, Nishimura Gen, Ohashi Hirofumi, Ikegawa Shiro

Abstract excerpt

Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early-onset of osteoarthritis (OA) mainly in the hip and knee joints, and abnormally small and/or irregular epiphyses. MED is clinically and genetically heterogeneous. Six causative genes of MED have been reported, including type IX collagen genes (COL9A1, COL9A2, COL9A3). All the type IX collagen...

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PMID: 15551337
DOI: 10.1002/ajmg.a.30411

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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