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TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

20 Feb 2017

Abstract excerpt

Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of...

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PMID: 28222202
DOI: 10.1590/1678-4685-gmb-2015-0321

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