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Article

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

Human genetics - 1 Jun 2007

Miyamoto Yoshinari, Matsuda Tatsuo, Kitoh Hiroshi, Haga Nobuhiko, Ohashi Hirofumi, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

Legg-Calvé-Perthes disease (LCPD) is a common childhood hip disorder characterized by sequential stages of involvement of the capital femoral epiphyses, including subchondral fracture, fragmentation, re-ossification and healing with residual deformity. Most cases are sporadic, but familial cases have been described, with some families having multiple affected members. Genetic factors have been implicated in the...

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Identifiers

PMID: 17394019
DOI: 10.1007/s00439-007-0354-y

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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