A Recurrent Missense Variant in the E3 Ubiquitin Ligase Substrate Recognition Subunit FEM1B Causes a Rare Syndromic Neurodevelopmental Disorder
Francois Lecoquierre,A. Mattijs Punt,Frederic Ebstein,Ilse Wallaard, Rob Verhagen,Maja Studencka-Turski,Yannis Duffourd, Se bastien Moutton, Frededic Tran Mau-Them,Christophe Philippe,John Dean, Stephen Tennant,Alice S. Brooks,Marjon A. van Slegtenhorst,Julie A. Jurgens,Brenda J. Barry,Wai-Man Chan,Eleina M. England,Mayra Martinez Ojeda,Elizabeth C. Engle,Caroline D. Robson,Michelle Morrow,A. Micheil Innes,Ryan Lamont,Matthea Sanderson, Elke Krger,Christel Thauvin,Ben Distel,Laurence Faivre,Ype Elgersma,Antonio Vitobello GENETICS IN MEDICINE（2024）
关键词
FEM1B,Neurodevelopmental disorder,Neurogenesis,Reductive stress,Ubiquitination
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