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Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

✍ Scribed by M. Naeem; D. Muhammad; W. Ahmad


Book ID
108668210
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
282 KB
Volume
153
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