Cartilage-hair Hypoplasia Caused by Novel Compound Heterozygous RMRP Mutations.
Loading...
Date
2011-07
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia,
caused by mutations in the RMRP gene. The skeletal abnormalities include
irregular metaphyses and cone shaped epiphyses of the hands. Molecular
diagnosis confirmed two novel RMRP mutations in a compound heterozygous
state in two siblings with this condition.
Description
Keywords
India, Metaphyseal chondrodysplasia, RMRP mutation, Skeletal, dysplasia
Citation
Reicherter Kerstin, Veeramani Amithkumar Iynapillai, Jagadeesh Sujatha. Cartilage-hair Hypoplasia Caused by Novel Compound Heterozygous RMRP Mutations. Indian Pediatrics. 2011 July; 48(7): 559-561.