Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans.
Efil Bayam, Peggy Tilly, Stephan C. Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabíola Paoli Monteiro, Carlos M. A. Guardia, João Paulo Kitajima, , Juliette D. Godin
The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.
EMBO Molecular Medicine · Nov 28, 2024Peer-reviewedNeuroscience