Article
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
BMC medical genetics - 18 Sept 2006
Hung Chia-Cheng, Su Yi-Ning, Chien Shu-Chin, Liou Horng-Huei, Chen Chih-Chuan, Chen Pau-Chung, Hsieh Chia-Jung, Chen Chih-Ping, Lee Wang-Tso, Lin Win-Li, Lee Chien-Nan
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of multiple hamartomas in many internal organs. Mutations in either one of 2 genes, TSC1 and TSC2, have been attributed to the development of TSC. More than two-thirds of TSC patients are sporadic cases, and a wide variety of mutations in the coding region of the TSC1 and TSC2 genes have been reported....
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