Less common manifestations in TSC

Boronat, S; Barber, I

Boronat, S (reprint author), Hosp Univ Sagrat Cor, Dept Clin Genet, Calle Viladomat 288, Barcelona, Spain.; Boronat, S (reprint author), Hosp Univ Sagrat Cor, Dept Pediat Neurol, Calle Viladomat 288, Barcelona 08029, Spain.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2018; 178 (3): 348

Abstract

Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ syst......

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