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A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia

✍ Scribed by M. Tariq; N. Wasif; W. Ahmad


Book ID
108669499
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
371 KB
Volume
157
Category
Article
ISSN
0007-0963

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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