A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability

Autor: Krami, Al Mehdi, Bouzidi, Aymane, Charif, Majida, Amalou, Ghita, Charoute, Hicham, Rouba, Hassan, Roky, Rachida, Lenaers, Guy, Barakat, Abdelhamid, Nahili, Halima
Zdroj: In European Journal of Medical Genetics June 2022 65(6)
Databáze: ScienceDirect