Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
CELF4基因N端区域的杂合变异（该区域对RNA结合活性至关重要）会导致神经发育障碍和肥胖。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01809-w
Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T; Bilan, Frédéric; Le Guyader, Gwenaël; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlène; Lee, Kristen N; Beil, Adelyn; Suri, Mohnish; Guerin, François; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, François; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N; Wentzensen, Ingrid M; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel
