Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

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 morbi...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Kwiatkowski, David J, Palmer, Michael R, Jozwiak, Sergiusz, Bissler, John, Franz, David, Segal, Scott, Chen, David, Sampson, Julian R
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795200/
https://ncbi.nlm.nih.gov/pubmed/25782670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.47
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