Browsing by Subject "Neurocutaneous disorder"
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Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state
(2021) [Journal article]Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop ...