Analysis of <i>CYLD</i> gene variants in 41 patients with multiple familial trichoepithelioma
This study identified six novel and three recurrent pathogenic variants in the CYLD gene among 41 patients with MFT. Comprising the largest sample size report in this field to date, this work considerably expands the mutational spectrum of the CYLD gene (currently comprising 144 variants) and carries important implications for genetic counseling.
Authors
- Yue Zhang (ORCID: https://orcid.org/0000-0003-3568-0395)
- Mengxing Cui (ORCID: https://orcid.org/0000-0001-9340-4204)
- Liyun Zheng
- Guiyuan Zhang
- Bo Liang
- Gang Chen
- Sijia Qin
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Anhui University (CN)
- Anhui Medical University (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
Publication Details
- Journal
- JDDG Journal der Deutschen Dermatologischen Gesellschaft
- Published
- 2026-03-11
- DOI
- https://doi.org/10.1111/ddg.70013
- Primary Topic
- Cancer and Skin Lesions
- Type
- article
- Field-Weighted Citation Impact
- 0.00