Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with <i>Ectodysplasin-A</i> Variants and the X-Chromosome Inactivation Pattern

The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic gene variants. The harmfulness of these variations was pred...

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Bibliographic Details

Published in:	Diagnostics
Main Authors:	Haochen Liu, Lanxin Su, Hangbo Liu, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han
Format:	Article
Language:	English
Published:	MDPI AG 2022-09-01
Subjects:	<i>Ectodysplasin-A</i> (<i>EDA</i>) skewed X-chromosome inactivation X-linked hypohidrotic ectodermal dysplasia (XLHED) phenotypic analysis
Online Access:	https://www.mdpi.com/2075-4418/12/10/2300