Associated Papers
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Mohassel P et al.
Neurology, 2022
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND et al.
Nature Genetics, 2017
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