Article
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Human mutation - 1 Jan 2011
Cluzeau Céline, Hadj-Rabia Smail, Jambou Marguerite, Mansour Sourour, Guigue Philippe, Masmoudi Sahben, Bal Elodie, Chassaing Nicolas, Vincent Marie-Claire, Viot Géraldine, Clauss François, Manière Marie-Cécile, Toupenay Steve, Le Merrer Martine, Lyonnet Stanislas, Cormier-Daire Valérie, Amiel Jeanne, Faivre Laurence, de Prost Yves, Munnich Arnold, Bonnefont Jean-Paul, Bodemer Christine, Smahi Asma
Abstract excerpt
Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, and hair. Three disease-causing genes have been hitherto identified, namely, (1) EDA1 accounting for X-linked forms, (2) EDAR, and (3) EDARADD, causing both autosomal dominant and recessive forms. Recently, WNT10A gene was identified as responsible for various autosomal...
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