CSDL Bài trích Báo - Tạp chí
chủ đề: Rare disease
1 Detection of an EDA mutation causing hypohidrotic ectodermal dysplasia in a Vietnamese patient / Vu Thi Hong Nhung, La Duc Duy, Le Thi Thanh Huong, Nguyen Thuy Duong // .- 2023 .- Vol 21 - Number 3 .- P. 407-414 .- 610
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by abnormal development of the structures derived from the ectoderm layer, including hair, teeth, nails, and sweat glands. The most observed form of HED, which is known as X-linked hypohidrotic ectodermal dysplasia (XLHED), is commonly attributed to genetic abnormalities in the ectodysplasin A (EDA) gene.