Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G. Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Saeed Abd Elmaksoud, , Hagar Mor‐Shaked
This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.
medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine