Article
Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.
Disease models & mechanisms - 1 Mar 2026
Hancock Melody B, Ruby Dana R, Bieler Rachael A, Cole D Chris, Marsden Kurt C
Abstract excerpt
CHARGE syndrome is a developmental disorder that affects 1 in 10,000 births, and patients exhibit both physical and behavioral characteristics. De novo variants in chromodomain helicase DNA binding protein 7 (CHD7) cause 67% of CHARGE syndrome cases. CHD7 is a DNA-binding chromatin remodeler with thousands of predicted binding sites in the genome, making it challenging to define molecular pathways linking loss of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
