Article
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
Orthodontics & craniofacial research - 1 Aug 2011
Naqvi S K, Wasif N, Javaid H, Ahmad W
Abstract excerpt
INTRODUCTION: Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, reduced ability to sweat and hypodontia. The HED exhibits X-linked, autosomal recessive and autosomal dominant mode of inheritance. Mutations in four genes including EDA, EDAR, EDARADD, and WNT10A are known to cause hypohidrotic and anhidrotic ectodermal dysplasia. MATERIALS AND METHODS: Genotyping of...
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