A new neurodevelopmental disease with brain abnormalities due to YWHAE loss-of-function variants: from human to mice
Anne-Sophie Denomme-Pichon,Ange-Line Bruel,Stephan C. Collins,Anna Mikhaleva,Christel Wagner,Valerie E. Vancollie,Mathys Weber,Carlos Prada,Alexis Overs,Maria Palomares-Bralo,Fernando Santos-Simarro,Marta Pacio-Miguez,Tiffany Busa,Eric Legius,Carlos A. Bacino,Jill A. Rosenfeld,Maria Antonietta Mencarelli,Ilaria Longo, Alessandra Renieri,Salvatore Grosso,Frederic Tran Mau-Them,Antonio Vitobello,Yannis Duffourd,Christopher J. Lelliott,Christel Thauvin-Robinet,Christophe Philippe,Binnaz Yalcin,Laurence Faivre EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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