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Article

A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.

Immunobiology - 1 Jan 2006

Muñoz-Robles Jorge, Allende Luis Miguel, Clemente Julian, Calleja Sara, Varela Pilar, Gonzalez Luis, de Pablos Paloma, Paz Estela, Morales Pablo

Abstract excerpt

Cartilage-hair hypoplasia (CHH), or McKusick type metaphyseal chondrodysplasia, was first recognized as a distinct entity in the Old Order Amish in the USA, but was later identified in other groups, and found to be unusually frequent among Finns. CHH is highly pleiotropic with manifestations that include short stature, defective cellular immunity and predisposition to several cancers. CHH is caused by mutations...

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Identifiers

PMID: 17015150
DOI: 10.1016/j.imbio.2006.05.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.PMID 17015150Read ↗

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