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Many faces of SMCHD1

The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.

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Figure 1: Possible mechanisms of BAMS-associated mutations contrasted with those of FSHD2-associated mutations.


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Correspondence to Andrew O M Wilkie.

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Wilkie, A. Many faces of SMCHD1. Nat Genet 49, 176–178 (2017).

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