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Mutation identification in a canine model of X-linked ectodermal dysplasia

✍ 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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X-linked hypohidrotic ectodermal dysplas
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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

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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

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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.