Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
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DOI: 10.1016/j.jns.2020.116819
Abstract: BACKGROUND Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association… read more here.
Keywords: report five; coffin siris; syndrome report; arid1b gene ... See more keywords