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Tuberous Sclerosis Due to Deletion of Exons 4-8 in TSC2 Gene, Favourably Responding to Phenytoin and Everolimus: A Case Report. [PDF]
CureusFinsterer J.
europepmc +1 more source
A Perivascular Epithelioid Cell Tumor in the Ascending Colon: A Rare Case Involving a Patient With Tuberous Sclerosis. [PDF]
CureusSeharada K +4 more
europepmc +1 more source
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Nature Reviews Disease Primers, 2016
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the ...
Elizabeth P. Henske +4 more
openaire +4 more sources
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the ...
Elizabeth P. Henske +4 more
openaire +4 more sources
Tuberous Sclerosis: Current Update.
Radiographics, 2021Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant neurocutaneous disorder secondary to mutations in the TSC1 or TSC2 tumor suppressor genes.
Mindy X. Wang +6 more
semanticscholar +1 more source