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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,Bruno Rinaldi, Romain Lecat,Noémie Schwaller,Sateesh Maddirevula,Fabiola Monteiro,João Paulo Kitajima,Fernando Kok,Mitsuhiro Kato,Ahlam A. A. Hamed,Mustafa A. Salih,Saeed Al Tala,Mais Hashem,Hiroko Tada,Hirotomo Saitsu,Sylvie Friant,Zafer Yüksel,Mitsuko Nakashima,Fowzan S. Alkuraya,Binnaz Yalcin,Juliette D. Godin

biorxiv（2023）

Cited 0|Views33
Key words
Inborn Errors of Metabolism
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