Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
OTUD6B基因的双等位基因变异会导致一种伴有癫痫发作和畸形特征的智力障碍综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.03.001
Santiago-Sim, Teresa; Burrage, Lindsay C; Ebstein, Frédéric; Tokita, Mari J; Miller, Marcus; Bi, Weimin; Braxton, Alicia A; Rosenfeld, Jill A; Shahrour, Maher; Lehmann, Andrea; Cogné, Benjamin; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Bézieau, Stéphane; Hazart, Isabelle; Nagakura, Honey; Immken, LaDonna L; Littlejohn, Rebecca O; Roeder, Elizabeth; Kara, Bulent; Hardies, Katia; Weckhuysen, Sarah; May, Patrick; Lemke, Johannes R; Elpeleg, Orly; Abu-Libdeh, Bassam; James, Kiely N; Silhavy, Jennifer L; Issa, Mahmoud Y; Zaki, Maha S; Gleeson, Joseph G; Seavitt, John R; Dickinson, Mary E; Ljungberg, M Cecilia; Wells, Sara; Johnson, Sara J; Teboul, Lydia; Eng, Christine M; Yang, Yaping; Kloetzel, Peter-Michael; Heaney, Jason D; Walkiewicz, Magdalena A