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

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, this has b...

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Detalles Bibliográficos
Autores principales: Popp, Bernt, Agaimy, Abbas, Kraus, Cornelia, Knaup, Karl X., Ekici, Arif B., Uebe, Steffen, Reis, André, Wiesener, Michael, Zweier, Christiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511147/
https://www.ncbi.nlm.nih.gov/pubmed/31077186
http://dx.doi.org/10.1186/s12885-019-5633-1