Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

Abstract Brain development requires the coordinated growth of structures and cues that are essential for forming neural circuits and cognitive functions. The corpus callosum, the largest interhemispheric connection, is formed by the axons of callosal projection neurons through a series of tightly re...

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Main Authors: 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, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin
Format: Article
Language:English
Published: Springer Nature 2024-11-01
Series:EMBO Molecular Medicine
Subjects:
WDR47
Corpus Callosum Dysgenesis
Neurodevelopmental Disorder
Callosal Neurons
Microtubule and Mitochondrial Homeostasis
Online Access:https://doi.org/10.1038/s44321-024-00178-z
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