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Cartilage hair hypoplasia and multiple basal cell carcinomas

✍ Scribed by Jodi M. Eisner; Mark Russell


Book ID
116580964
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
191 KB
Volume
54
Category
Article
ISSN
1097-6787

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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