A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia
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DOI: 10.1097/md.0000000000019244
Abstract: Abstract A mutation in the epithelial morphogen gene ectodysplasin-A1 (EDA1) is responsible for the disorder X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia. XLHED is characterized by impaired development of hair,… read more here.
Keywords: ectodermal dysplasia; linked hypohidrotic; hypohidrotic ectodermal; eda1 ... See more keywords