Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis
This study identified variants in the <i>COL7A1</i> gene within Chinese families, expanding the variant spectrum of DEB. These findings lay the groundwork for improved genetic diagnosis and counseling.
Authors
- Yirui Wang (ORCID: https://orcid.org/0000-0001-5767-3343)
- Wenquan Niu (ORCID: https://orcid.org/0000-0003-1715-3372)
- Zhuo Li (ORCID: https://orcid.org/0000-0001-6010-6139)
- Yi Hu (ORCID: https://orcid.org/0000-0002-2882-5210)
- Chunmeng Liu (ORCID: https://orcid.org/0000-0002-7442-9083)
- Mingyue Lv (ORCID: https://orcid.org/0009-0004-7765-3381)
- Juan Du (ORCID: https://orcid.org/0000-0002-5701-6703)
- Liangdan Sun (ORCID: https://orcid.org/0000-0002-8499-5353)
- Weiwei Chen (ORCID: https://orcid.org/0000-0003-2289-3578)
- Yu Zhang (ORCID: https://orcid.org/0000-0001-6113-8706)
- Zhen Qi (ORCID: https://orcid.org/0000-0002-2032-2985)
- Xinyu Feng (ORCID: https://orcid.org/0009-0006-8363-4771)
- Xiaofen Guo
- Yang Han (ORCID: https://orcid.org/0009-0004-6237-5630)
Institutions
- Tianjin University of Traditional Chinese Medicine (CN)
- North China University of Science and Technology (CN)
- Anhui Medical University (CN)
- North China University of Science and Technology Affiliated Hospital (CN)
- TED University (TR)
- First Affiliated Hospital of Anhui Medical University (CN)
- Tianjin Institute of Industrial Biotechnology (CN)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1159/000545348
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00