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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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Uloženo v:
Hlavní autoři: Haochen Liu, Lanxin Su, Hangbo Liu, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2022-09-01
Edice:Diagnostics
Témata:
<i>Ectodysplasin-A</i> (<i>EDA</i>)
skewed X-chromosome inactivation
X-linked hypohidrotic ectodermal dysplasia (XLHED)
phenotypic analysis
On-line přístup:https://www.mdpi.com/2075-4418/12/10/2300
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