Article
RMRP mutations in cartilage-hair hypoplasia.
American journal of medical genetics. Part A - 1 Oct 2006
Hermanns Pia, Tran Alyssa, Munivez Elda, Carter Susan, Zabel Bernhard, Lee Brendan, Leroy Jules G
Abstract excerpt
Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP. Twenty-seven CHH patients were referred for molecular evaluation of the clinical diagnosis. RMRP mutations were found in 22 patients. The phenotype in one of the five mutation-negative patients was...
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