SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
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Shaw ND, et al. Among authors: meehan rr.
Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9.
Nat Genet. 2017.
PMID: 28067909
Free PMC article.
