Articles with "smarce1 mutation" as a keyword



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Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report

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Published in 2018 at "Journal of Pediatric Hematology/Oncology"

DOI: 10.1097/mph.0000000000001361

Abstract: Coffin-Siris syndrome (CSS) is a rare congenital disorder with variable clinical phenotype consisting of developmental delay and characteristic facial features. It is caused by mutations in the chromatin remodeling switch/sucrose nonfermenting complex. Although SWI/SNF genes… read more here.

Keywords: anaplastic astrocytoma; coffin siris; smarce1; smarce1 mutation ... See more keywords