Associated Papers
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
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD et al.
The Journal of Biological Chemistry, 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
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ et al.
Nature Genetics, 2012
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