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Heterozygote manifestations in X-chromosomal ectodermal dysplasia

✍ Scribed by Gal, Andreas

Book ID
115022999
Publisher
Springer (Biomed Central Ltd.)
Year
2012
Tongue
English
Weight
70 KB
Volume
8
Category
Article
ISSN
1746-160X

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## Abstract X‐linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (__ED1__) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin‐A; EDA‐A) involved in