Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia

Nancy Monroy-Jaramillo,José David Abad‐Flores,Constanza García-Delgado,América Villaseñor‐Domínguez, Carlos Mena-Cedillos,Mirna Toledo‐Bahena, Adriana Valencia-Herrera,Adriana Sánchez-Boiso, Yumiko Imelda Akaki‐Carreño, Blanca Del Río Navarro,Jesús Aguirre-Hernández,Marisol López-López,Alicia Cervantes,Marco Cerbón,Verónica Fabiola Morán-Barroso

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY（2017）

引用 5|浏览9

暂无评分

摘要

Hypohidrotic ectodermal dysplasia (HED) has a prevalence of 1:5,000-10,000 newborns and it is characterized by hypotrichosis and abnormalities in teeth and sweat glands.1 Most patients have an X-linked (XLHED) pattern of inheritance due to mutations in EDA which encodes for ectodysplasin. In addition, three HED-associated autosomal genes are known: EDAR which encodes for an ectodysplasin receptor; EDARADD corresponding to a cytoplasmic adaptor molecule and WNT10A which encodes for a signaling molecule of the WNT/β-catenin pathway.1-4This article is protected by copyright. All rights reserved

查看译文

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要