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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

✍ Scribed by McGrath, John A.; McMillan, James R.; Shemanko, Carrie S.; Runswick, Sarah K.; Leigh, Irene M.; Lane, E. Birgitte; Garrod, David R.; Eady, Robin A.J.

Book ID: 109918346
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 813 KB
Volume: 17
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1097-240

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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