Article
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
American journal of human genetics - 12 Nov 2010
Feldshtein Maya, Elkrinawi Suliman, Yerushalmi Baruch, Marcus Barak, Vullo Daniela, Romi Hila, Ofir Rivka, Landau Daniel, Sivan Sara, Supuran Claudiu T, Birk Ohad S
Abstract excerpt
Excessive chloride secretion in sweat (hyperchlorhidrosis), leading to a positive sweat test, is most commonly indicative of cystic fibrosis yet is found also in conjunction with various metabolic, endocrine, and dermatological disorders. There is conflicting evidence regarding the existence of a...
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