European journal of human genetics : EJHG
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.
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, Anne de Saint-Martin, Daniel C Koboldt, Emily Sites
Published: 202610.1038/s41431-025-02001-w
Abstract
We recently identified de novo missense variants affecting the small GTPase ARF3 as the cause of a disorder characterized by developmental delay/intellectual disability, microcephaly, brain atrophy, epilepsy and minor skeletal defects. In vitro and i…
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