A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
E3泛素连接酶底物识别亚基FEM1B中一个反复出现的错义变异会导致一种罕见的综合征性神经发育障碍。
期刊:Genet Med
影响因子:6.600
doi:10.1016/j.gim.2024.101119
François Lecoquierre ,A Mattijs Punt ,Frédéric Ebstein ,Ilse Wallaard ,Rob Verhagen ,Maja Studencka-Turski ,Yannis Duffourd ,Sébastien Moutton ,Frédédic 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 Krüger ,Christel Thauvin ,Ben Distel ,Laurence Faivre ,Ype Elgersma ,Antonio Vitobello