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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975391/
https://www.ncbi.nlm.nih.gov/pubmed/27494029
http://dx.doi.org/10.1371/journal.pgen.1006242