SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
SMCHD1基因变异与2型面肩肱型肌营养不良症及其致病性和疾病外显率预测的挑战
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01781-x
Gérard, Laurène; Delourme, Mégane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonnière, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; De La Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Mélanie; Hadouiri, Nawale; Kouton, Ludivine; Laforêt, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Véronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaëlle; Magdinier, Frédérique
