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Deficiency of humoral immunity in cartilage-hair hypoplasia

✍ Scribed by Outi Mäkitie; Ilkka Kaitila; Erkki Savilahti

Book ID
117847456
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
88 KB
Volume
137
Category
Article
ISSN
1097-6833

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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