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Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report
Ming-Yi Liao1, Hui Peng2, Long-Nian Li1
1Department of Dermatology, First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
World Journal of Clinical Cases
|March 17, 2023
Summary
This study identifies a GJB6 gene variation causing hidrotic ectodermal dysplasia (HED) in a Chinese family. The findings highlight HED
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Hidrotic ectodermal dysplasia (HED) is a genetic disorder affecting ectodermal structures.
- A Chinese Han family presented with varying degrees of HED manifestations.
- Clinical presentations mimicked other conditions like nail dystrophy and palmoplantar keratosis.
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