The clinical presentation caused by truncating CHD8 variants
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DOI: 10.1111/cge.13554
Abstract: Variants in the chromodomain helicase DNA‐binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and overgrowth and CHD8 is one of the causative genes for OGID (overgrowth and ID).… read more here.
Keywords: chd8 variants; presentation caused; caused truncating; clinical presentation ... See more keywords