Article
Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.
Human mutation - 1 Jan 2026
Avgeris Socratis N, Fostira Florentia, Apostolou Paraskevi, Delimitsou Angeliki, Smyrniotis Stefanos, Yannoukakos Drakoulis, Stravopodis Dimitrios J, Syntichaki Popi, Voutsinas Gerassimos E
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder caused by pathogenic variants in the TSC1 or TSC2 genes, resulting in dysregulation of the mTOR signaling pathway and subsequent hamartoma formation. Although the genetic basis of TSC is well established, population-specific data on TSC1 and TSC2 variants are still emerging. The aim of this study was to characterize the variant...
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