Article
Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.
Molecular genetics & genomic medicine - 1 Nov 2021
Yu Kang, Shen Yihan, Jiang Cai-Ling, Huang Wei, Wang Feng, Wu Yi-Qun
Abstract excerpt
BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected. This study aimed at revealing the pathogenesis of two HED families and making a prenatal diagnosis for one pregnant female carrier. DESIGNS: Genomic DNA was extracted from two HED patients and sequenced using whole exome sequencing (WES)....
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