Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations

European Journal of Human Genetics 2026 Open access

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Authors: Valentina Muto, Giulia Fasano, Francesca Clementina Radio, Catia Pedalino, Mattia Carvetta, Simona Coppola, Erika Zara, Stefania Petrini, Caroline Schluth-Bolard, Claire Bilbault, Salima El Chehadeh, Bénédicte Gérard
+12 more Anne De Saint-Martin, Daniel C. Koboldt, Emily R. Sites, Cynthia Curry, Theresia Herget, Ann-Sophie Höing, Leonie von Elsner, Eileen Elizabeth Barr, Ugur Hodoglugil, Anne Slavotinek, Marco Tartaglia, Antonella Lauri
DOI: 10.1038/s41431-025-02001-w
Cited by: 1
References: 19

Fields of Study & Subjects

Cellular transport and secretion Genomics and Rare Diseases Lysosomal Storage Disorders Research

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
3
Pages
438–443
Publication date
8 January 2026
Language
EN