RMRP mutations in cartilage-hair hypopla
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Pia Hermanns; Alyssa Tran; Elda Munivez; Susan Carter; Bernhard Zabel; Brendan L
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Article
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2006
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John Wiley and Sons
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English
β 128 KB
π 1 views
## Abstract 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, nonβcoding RNA gene __RMRP__. Twentyβseven CHH patients were referred for molecular evaluation o