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Molecular aspects of hypohidrotic ectodermal dysplasia

✍ Scribed by Marja L. Mikkola


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
137 KB
Volume
149A
Category
Article
ISSN
1552-4825

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We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were

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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