Article
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
American journal of medical genetics. Part A - 1 Jul 2013
Jones Kyle B, Goodwin Alice F, Landan Maya, Seidel Kerstin, Tran Dong-Kha, Hogue Jacob, Chavez Miquella, Fete Mary, Yu Wenli, Hussein Tarek, Johnson Ramsey, Huttner Kenneth, Jheon Andrew H, Klein Ophir D
Abstract excerpt
Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis due to hypoplastic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.