Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family that is common in patients with Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) but occurs rarely sporadically. Though histologically benign, renal angiomyolipoma can cause life-threatening hem...

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發表在:PLoS Genet
Main Authors: Giannikou, Krinio, Malinowska, Izabela A., Pugh, Trevor J., Yan, Rachel, Tseng, Yuen-Yi, Oh, Coyin, Kim, Jaegil, Tyburczy, Magdalena E., Chekaluk, Yvonne, Liu, Yang, Alesi, Nicola, Finlay, Geraldine A., Wu, Chin-Lee, Signoretti, Sabina, Meyerson, Matthew, Getz, Gad, Boehm, Jesse S., Henske, Elizabeth P., Kwiatkowski, David J.
格式: Artigo
語言:Inglês
出版: Public Library of Science 2016
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4975391/
https://ncbi.nlm.nih.gov/pubmed/27494029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006242
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