Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck…·Stephanie Baskin
This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.