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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

✍ Scribed by M.D. Bashyam; A.K. Chaudhary; E.C. Reddy; V. Reddy; V. Acharya; H.A. Nagarajaram; A.R.R. Devi; L. Bashyam; A.B. Dalal; N. Gupta; M. Kabra; M. Agarwal; S.R. Phadke; R. Tainwala; R. Kumar; S.V. Hariharan


Book ID
108672088
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
508 KB
Volume
166
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