Article
Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.
Reviews on recent clinical trials - 1 Jan 2023
Papageorgiou Georgios, Skouteris Nikolaos, Valavanis Christos, Stanc Gabriela-Monica, Souka Efthymia, Charalampakis Nikolaos
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disease that affects multiple organs and affects the quality of life. Mutations in TSC1 and TSC2 genes are causing dysregulations in the mammalian target of the rapamycin (mTOR) pathway, inducing mostly benign but also malignant tumors, including renal cell carcinoma (RCC). The diagnosis of TSC, based on established clinical and genetic criteria, is...
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