A form of muscular dystrophy associated with pathogenic variants in JAG2
一种与JAG2基因致病变异相关的肌营养不良症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.03.020
Coppens, Sandra; Barnard, Alison M; Puusepp, Sanna; Pajusalu, Sander; Õunap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R; Goodrich, Julia K; England, Eleina M; Weisburd, Ben; Ganesh, Vijay S; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G; Quinlivan, Ros; Beiraghi Toosi, Mehran; Ghayoor Karimiani, Ehsan; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C; Klee, Eric W; Łusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisèle; Cohen, Enzo; Boland-Augé, Anne; Deleuze, Jean-François; Meng, Yao; Töpf, Ana; Vilain, Catheline; Pacak, Christina A; Rivera-Zengotita, Marie L; Bönnemann, Carsten G; Straub, Volker; Handford, Penny A; Draper, Isabelle; Walter, Glenn A; Kang, Peter B