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Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia

✍ Scribed by Gyure, Kymberly A.; Kurczynski, Thaddeus W.; Gunning, William; French, Beatrice N.


Book ID
123574468
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
437 KB
Volume
8
Category
Article
ISSN
0887-8994

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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