De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
FRYL基因的新生突变与发育迟缓、智力障碍和面部畸形有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.02.007
Pan, Xueyang; Tao, Alice M; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E; Newburger, Jane W; Revah-Politi, Anya; Granadillo, Jorge L; Stegmann, Alexander P A; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E H; Sweetser, David A; Glinton, Kevin E; Kirk, Susan E; Wangler, Michael F; Yamamoto, Shinya; Chung, Wendy K; Bellen, Hugo J