Article
[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Oct 2024
Wang M Y, Zhang Y D, Xie Z H, Wang G W, Wang J, Chen C F, Duan Y T, Li D X
Abstract excerpt
2例男性少汗性外胚层发育不良患儿，分别因“毛发发育异常”和“少牙畸形”就诊，例1主要表现为毛发稀疏、无汗、面部畸形及全身皮肤干燥粗糙等，例2主要表现为少牙畸形、毛发稀疏、少汗等。基因检测结果显示例1 EDA基因存在c.111delG（p.N38Tfs*19）半合子移码变异，例2 EDA基因存在c.463C>T（p.R155C）半合子错义变异。基因检测可对该病进行明确诊断，为遗传咨询及产前诊断提供指导。.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.