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A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family

✍ Scribed by NAVEED WASIF; MUHAMMAD TARIQ; GHAZANFAR ALI; MUHAMMAD JAWAD HASSAN; WASIM AHMAD


Book ID
109090972
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
321 KB
Volume
27
Category
Article
ISSN
0736-8046

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## Abstract We report on an 18‐year‐old woman, born to first‐cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unu