Hypohidrotic ectodermal dysplasia: clinical and molecular review.

Abstract excerpt

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1), a member of the TNFα-related signaling pathway. The proteins...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anodontia
• Share to Ectodermal Dysplasia 1, Anhidrotic