Articles with "crebbp mutations" as a keyword



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Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

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Published in 2018 at "Developmental cell"

DOI: 10.1016/j.devcel.2018.02.012

Abstract: Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of… read more here.

Keywords: adult; crebbp mutations; opposing effects; rubinstein taybi ... See more keywords