Article
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
European journal of human genetics : EJHG - 1 Dec 2015
Kwiatkowski David J, Palmer Michael R, Jozwiak Sergiusz, Bissler John, Franz David, Segal Scott, Chen David, Sampson Julian R
Abstract excerpt
Tuberous sclerosis complex is an autosomal dominant disorder that occurs owing to inactivating mutations in either TSC1 or TSC2. Tuberous sclerosis complex-related tumors in the brain, such as subependymal giant cell astrocytoma, and in the kidney, such as angiomyolipoma, can cause significant morbidity and mortality. Recently, randomized clinical trials (EXIST-1 and EXIST-2) of everolimus for each of these...
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