Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

European Journal of Human Genetics, Published online: 26 October 2023; doi:10.1038/s41431-023-01461-2Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

Source: European Journal of Human Genetics - October 26, 2023 Category: Genetics & Stem Cells Authors: Eyyup Uctepe Barbara Vona Fatma Nisa Esen F. Mujgan Sonmez Thomas Smol Sait T ümer Hanifenur Manc ılar Dilan Ece Geylan Durgun Odile Boute Meysam Moghbeli Ehsan Ghayoor Karimiani Narges Hashemi Behnoosh Bakhshoodeh Hyung Goo Kim Reza Maroofian Ahmet Yes Source Type: research