Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

Abstract Background Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD). Though there is no clinical evidence for an increased tumor risk in individuals with NDDs due to germline mutations in most of these genes so far, th...

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Bibliographic Details
Main Authors: Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X. Knaup, Arif B. Ekici, Steffen Uebe, André Reis, Michael Wiesener, Christiane Zweier
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Cancer
Subjects:
ARID1B
TSC2
Tuberous sclerosis complex
Neurodevelopmental disorders
Angiomyolipoma
Mosaic
Online Access:http://link.springer.com/article/10.1186/s12885-019-5633-1

Internet

http://link.springer.com/article/10.1186/s12885-019-5633-1

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