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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.
Hum Mol Genet. 2015.
PMID: 25256356
Free PMC article.
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.
Sacconi S, et al. Among authors: vos versteeg m.
Am J Hum Genet. 2013 Oct 3;93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26.
Am J Hum Genet. 2013.
PMID: 24075187
Free PMC article.
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