A TSC2 recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex
This study reported a Han-Chinese TSC patient with a recurrent variant <i>TSC2</i> c.5126C>T (p.P1709L). These findings broaden the phenotypic spectrum of TSC caused by this variant and may contribute to improving TSC genetic diagnoses as well as understanding of its mechanisms.
Authors
- Xinyue Deng (ORCID: https://orcid.org/0000-0002-7634-2774)
- Hao Deng (ORCID: https://orcid.org/0000-0003-3240-4352)
- Lamei Yuan (ORCID: https://orcid.org/0000-0001-7558-0669)
- Shan Wu (ORCID: https://orcid.org/0000-0003-1184-974X)
Institutions
- Central South University (CN)
- Third Xiangya Hospital (CN)
- Marymount University (US)
Publication Details
- Journal
- Pakistan Journal of Medical Sciences
- Published
- 2024-12-27
- DOI
- https://doi.org/10.12669/pjms.41.1.10153
- Citations
- 1
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Health Commission of Hunan Province
- National Natural Science Foundation of China
- Central South University
- Xiangya Hospital, Central South University