Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes

Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of benign tumors and lesions in multiple organ systems. The syndrome arises from heterozygous mutations in either TSC1 or TSC2. In this study, we identified a family with a TSC1 c.363...

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Main Authors: Xiu-juan Yao, Ying Lin, Jing Zou, Zun-lin Cai, Zi-Yan Xu, Xiao-qin Li, Qian Chen, Hong-ping Yu, Jian-hui Zhang, Dan-dan Ruan, Mei-zhu Gao, Li Zhang, Jie-wei Luo, Bao-song Xie
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-07906-6
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