Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

doi:10.1038/s44321-024-00178-z

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Article

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

EMBO molecular medicine - 1 Jan 2025

Bayam Efil, Tilly Peggy, Collins Stephan C, Rivera Alvarez José, Kannan Meghna, Tonneau Lucile, Brivio Elena, Rinaldi Bruno, Lecat Romain, Schwaller Noémie, Cotellessa Ludovica, Maddirevula Sateesh, Monteiro Fabiola, Guardia Carlos M, Kitajima João Paulo, Kok Fernando, Kato Mitsuhiro, Hamed Ahlam A A, Salih Mustafa A, Al Tala Saeed, Hashem Mais O, Tada Hiroko, Saitsu Hirotomo, Stabile Mariano, Giacobini Paolo, Friant Sylvie, Yüksel Zafer, Nakashima Mitsuko, Alkuraya Fowzan S, Yalcin Binnaz, Godin Juliette D

Abstract excerpt

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 regulated cellular events, including neuronal specification, migration, axon extension and branching. Defects in any of those...

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PMID: 39609633
DOI: 10.1038/s44321-024-00178-z
PMCID: PMC11730659

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