CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D. H. Konrad, DDD Study, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers (+52 others)
2019 Genetics in Medicine  
Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).
doi:10.1038/s41436-019-0585-z pmid:31239556 pmcid:PMC6892744 fatcat:qjol2zg5ovf47osgcvfkgu2tou