SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F.
Gérard L, et al. Among authors: thauvin c.
Eur J Hum Genet. 2024 Dec 26. doi: 10.1038/s41431-024-01781-x. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39725690