High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia

• Päätekijät: Constanza García-Delgado (Tekijä), Miguel Angel Noriega-Juárez (Tekijä), Alicia Cervantes (Tekijä), José D Abad-Flores (Tekijä), Mirna Toledo-Bahena (Tekijä), Adriana Valencia-Herrera (Tekijä), Carlos A Mena-Cedillos (Tekijä), América Villaseñor-Domínguez (Tekijä), Adriana Sánchez-Boiso (Tekijä), Yumiko Akaki-Carreño (Tekijä), Blanca Del Río-Navarro (Tekijä), Jesús Aguirre-Hernández (Tekijä), Marisol López-López (Tekijä), Marco Cerbón (Tekijä), Verónica F Morán-Barroso (Tekijä), Nancy Monroy-Jaramillo (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Wolters Kluwer Medknow Publications, 2020-01-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by EDA pathogenic variants. Female carriers show several clinical manifestations in variable percentages. We studied 11 Mexican heterozygous females with an EDA variant. The most frequent symptoms were similar to previous reports; however,...