## 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
Mutation identification in a canine model of X-linked ectodermal dysplasia
β Scribed by Margret L. Casal; Jennifer L. Scheidt; James L. Rhodes; Paula S. Henthorn; Petra Werner
- Publisher
- Springer-Verlag
- Year
- 2005
- Tongue
- English
- Weight
- 146 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0938-8990
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## Communicated by Uta Francke Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1, altered splicing site in in
A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xql3.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.