Associated Papers
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L et al.
European Journal of Human Genetics : Ejhg, 2025
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K et al.
Neurology, 2018
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
Larsen M et al.
European Journal of Human Genetics : Ejhg, 2015
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