Genetic & Genomic MedicinemedRxivPreprint
The neurodevelopmental spectrum of CASK-related disorder
Jessica Alice Martin, Alkistis Mavrogalou-Foti, Josefine Eck…·Kate Baker
This study reviews CASK-related disorder characteristics in 151 individuals, comparing recently diagnosed cases to prior reports and identifying new associations like sleep difficulties and cerebral visual impairment.
DOI 10.1101/2024.09.30.24314620