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Novel Mutation in Boy With Cartilage-hair Hypoplasia

✍ Scribed by I-Chun Lin; Hong-Ren Yu; Ying-Jui Lin; Tzu-Jou Wang


Book ID
119639653
Publisher
Elsevier
Year
2010
Tongue
English
Weight
229 KB
Volume
51
Category
Article
ISSN
1875-9572

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## 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, non‐coding RNA gene __RMRP__. Twenty‐seven CHH patients were referred for molecular evaluation o