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Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Brain & development - 1 Aug 2006

Choi Ji-Eun, Chae Jong-Hee, Hwang Yong-Seung, Kim Ki-Joong

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC is caused by mutations affecting either of the tumor-suppressor genes TSC1 and TSC2. At least 495 mutations of TSC1 and TSC2 have been reported. Twenty-two males and 22 females who were diagnosed with TSC...

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Identifiers

PMID: 16554133
DOI: 10.1016/j.braindev.2006.01.006

Genes

TSC2
TSC1

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