Article
X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.
Boletin medico del Hospital Infantil de Mexico - 1 Jan 2020
Noriega-Juárez Miguel A, García-Delgado Constanza, Villaseñor-Domínguez América, Mena-Cedillos Carlos A, Toledo-Bahena Mirna, Valencia-Herrera Adriana, Baeza-Capetillo Patricia, Cervantes Alicia, Morán-Barroso Verónica F, Monroy-Jaramillo Nancy
Abstract excerpt
Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an...
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