A form of muscular dystrophy associated with pathogenic variants in JAG2.
作者信息
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, Toosi Mehran Beiraghi, Karimiani Ehsan Ghayoor, 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
出版信息
Am J Hum Genet. 2021 Jun 3;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018.
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