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[Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia]

Fuhua Duan1, Yiwen Zhai, Xiangdong Kong

  • 1Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|May 11, 2021
PubMed

Insights

A genetic deletion in the EDA gene caused X-linked hypohidrotic ectodermal dysplasia (XLHED) in an infant. This finding aids in genetic counseling and prenatal diagnosis for affected families.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder.
  • It affects the development of ectodermal structures like hair, teeth, and sweat glands.
Abstract

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