ESCLEROSE TUBEROSA – DOENÇA GENÉTICA RARA | TUBEROUS SCLEROSIS – RARE GENETIC DIASEASE

Gonçalo Atalaia, Patrícia Vasconcelos, Nuno Bragança

Palavras chave: esclerose tuberosa; angiomiolipomas.

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DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex.Pediatr Clin North Am. 2015;62:633-648.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, et al. Analysis of 65 tuberous sclerosis complex (TSC) patients by

TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat 2005; 26: 374-83.

Evans LT, Morse R, Roberts DW. Epilepsy surgery in tuberous sclerosis: a review. Neurosurg Focus 2012; 32:E5