Article
Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.
American journal of medical genetics. Part A - 1 Oct 2014
Burger Kristin, Schneider Anne-Theres, Wohlfart Sigrun, Kiesewetter Franklin, Huttner Kenneth, Johnson Ramsey, Schneider Holm
Abstract excerpt
X-linked hypohidrotic ectodermal dysplasia (XLHED), the most frequent form of ectodermal dysplasia, is a genetic disorder of ectoderm development characterized by malformation of multiple ectodermal structures such as skin, hair, sweat and sebaceous glands, and teeth. The disease is caused by a broad spectrum of mutations in the gene EDA. Although XLHED symptoms show inter-familial and intra-familial variability,...
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