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Article

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.

American journal of medical genetics. Part A - 15 Dec 2003

Nakashima Eiji, Mabuchi Akihiko, Kashimada Kenichi, Onishi Toshikazu, Zhang Junwei, Ohashi Hirofumi, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene (RMRP), and identified four novel mutations in two patients with typical and atypical cartilage-hair hypoplasia (CHH), a form of MCD characterized by extra-skeletal manifestations including hypoplastic hair and defective immunity. A patient with typical CHH had a 17-bp...

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PMID: 14608646
DOI: 10.1002/ajmg.a.20281

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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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RMRP mutations in Japanese patients with cartilage-hair hypoplasia.PMID 14608646Read ↗

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