Molecular aspects of hypohidrotic ectodermal dysplasia
β Scribed by Marja L. Mikkola
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 137 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
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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
## Abstract Xβlinked 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 (ectodysplasinβA; EDAβA) involved in