A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family

Abstract Background Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Due to its rarity, there are currently few methods that can be applied to facilitate its diagnosis during the prenatal period. Althou...

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Bibliographic Details
Main Authors: Limin Yao, Lilan Wan, Yunhong Lin, Yinhong Zhang, Xilun Cai, Jianhong Ye, Guangyu He, Baosheng Zhu, Jinman Zhang
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Pregnancy and Childbirth
Subjects:
Hypohidrotic ectodermal dysplasia
Prenatal ultrasound screening
Whole-exome sequencing
EDA c.806G > T
Online Access:https://doi.org/10.1186/s12884-025-07963-9
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https://doi.org/10.1186/s12884-025-07963-9

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