A novel TSC2 variant cosegregating with TSC in the family: A case report
The novel gene mutation sites to be found provide more research entry points for genetic diagnosis, providing new clinical data for tuberous sclerosis complex research.
Authors
- Zehua Wu (ORCID: https://orcid.org/0000-0001-7006-3232)
- Jianwei Cao (ORCID: https://orcid.org/0000-0003-0887-1110)
- Xiaowen Zhang (ORCID: https://orcid.org/0000-0001-5255-8610)
- Liang Shao (ORCID: https://orcid.org/0000-0002-1421-8735)
- Meiling Liu (ORCID: https://orcid.org/0000-0001-7953-1506)
- Cai Zeng
- Kaijun Zheng
- Jialong Chen (ORCID: https://orcid.org/0000-0001-5040-0692)
- Renming Zhong (ORCID: https://orcid.org/0000-0002-1429-6469)
- Mingxing Liu
Institutions
- Guangdong Medical College (CN)
- Zhongshan People's Hospital (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-02-28
- DOI
- https://doi.org/10.1097/md.0000000000041576
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00