ARF1-related disorder: phenotypic and molecular spectrum

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 neurodev...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579487/
https://www.ncbi.nlm.nih.gov/pubmed/37185208
http://dx.doi.org/10.1136/jmg-2022-108803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579487/
https://www.ncbi.nlm.nih.gov/pubmed/37185208
http://dx.doi.org/10.1136/jmg-2022-108803

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