학술논문
De novo variants in CNOT9cause a neurodevelopmental disorder with or without epilepsy
Document Type
Article
Author
von Wintzingerode, Lydia; Ben-Zeev, Bruria; Cesario, Claudia; Chan, Katie M.; Depienne, Christel; Elpeleg, Orly; Iascone, Maria; Kelley, Whitley V.; Nassogne, Marie-Cécile; Niceta, Marcello; Pezzani, Lidia; Rahner, Nils; Revencu, Nicole; Bekheirnia, Mir Reza; Santiago-Sim, Teresa; Tartaglia, Marco; Thompson, Michelle L.; Trivisano, Marina; Hentschel, Julia; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry
Source
Genetics in Medicine; July 2023, Vol. 25 Issue: 7
Subject
Language
ISSN
10983600; 15300366
Abstract
The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9.