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Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

✍ Scribed by Vincent, Marie C; Biancalana, Valérie; Ginisty, Danièle; Mandel, Jean L; Calvas, Patrick

Book ID
110025124
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
177 KB
Volume
9
Category
Article
ISSN
1018-4813

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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