ESPE Abstracts

Background: CCCTC-binding factor (coded by CTCF gene, OMIM *604167), as a transcription insulation protein, plays a key role for regulating the temporal and spatial transcription of genes related to growth in mammals and topologically associated chromatin loop formation. Pathogenic variants in CTCF gene are associated with mental retardation, autosomal dominant 21 (MRD21, MIM #615502) with short stature, mild facial deformities, and mental re...