Article
The genomic landscape of tuberous sclerosis complex.
Nature communications - 15 Jun 2017
Martin Katie R, Zhou Wanding, Bowman Megan J, Shih Juliann, Au Kit Sing, Dittenhafer-Reed Kristin E, Sisson Kellie A, Koeman Julie, Weisenberger Daniel J, Cottingham Sandra L, DeRoos Steven T, Devinsky Orrin, Winn Mary E, Cherniack Andrew D, Shen Hui, Northrup Hope, Krueger Darcy A, MacKeigan Jeffrey P
Abstract excerpt
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the genomic landscape of...
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