De Sainte Agathe, Jean Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S.; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L.; Bryant, Emily M.; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M.; Friedman, Jennifer R.; Iascone, Maria; Cereda, Anna; Miao, Térence; Leguern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois Dominique; Chung, Wendy; Weaver, Kathryn N.; Owens, Joshua W.; Husami, Ammar; Chaudhari, Bimal P.; Stone, Brandon S.; Burns, Katie; Li, Rachel; De Lange, Iris M.; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W.; Trimouille, Aurélien
(BMJ Publishing Group, 2023-10-01)
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive ...