In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F.
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Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523.
Nucleic Acids Res. 2023.
PMID: 37334829
Free PMC article.