Novel Mutation in Boy With Cartilage-hair Hypoplasia

Novel Mutation in Boy With Cartilage-hair Hypoplasia

Cartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. The clinical phenotypes include variable degrees of bone and hair dysplasia, deficient cellular and/or humoral immunity, and a predisposition to malignancy. Methods: We performed genetic st...

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Bibliographic Details
Main Authors: I-Chun Lin, Hong-Ren Yu, Ying-Jui Lin, Tzu-Jou Wang
Format: Article
Language:English
Published: Elsevier 2010-12-01
Series:Pediatrics and Neonatology
Subjects:
cartilage-hair hypoplasia
immunodeficiency
RNA component of the mitochondrial RNA processing endoribonuclease gene (RMRP)
short stature
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957210600630

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http://www.sciencedirect.com/science/article/pii/S1875957210600630

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