Article
Tuberous sclerosis complex.
Handbook of clinical neurology - 1 Jan 2018
Hasbani Daphne M, Crino Peter B
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are...
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