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Tuberous Sclerosis Complex

1 Aug 2023

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in the causative genes TSC1 or TSC2. The elucidation of the...

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PMID: 37532517
DOI: 10.2302/kjm.2023-0011-ir

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