Article
ARF1-related disorder: phenotypic and molecular spectrum.
Journal of medical genetics - 1 Oct 2023
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
Abstract excerpt
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 description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. METHODS: We collected detailed phenotypes of an international cohort of individuals (n=17) with...
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