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Updated: Apr 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Ectodermal dysplasia (ED) syndrome
Siew-Yin Chee1, Chung-Hsing Wanga2, Wei-De Lina3
1Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
Abstract:
Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.
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