Articles with "presentation caused" as a keyword



Photo from academic.microsoft.com

The clinical presentation caused by truncating CHD8 variants

Sign Up to like & get
recommendations!
Published in 2019 at "Clinical Genetics"

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