NeuroscienceEMBO Molecular MedicinePeer-reviewed
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…·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.
2 citations