Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.
de Greef JC, et al. Among authors: slutter b.
Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437.
Hum Mol Genet. 2018.
PMID: 29281018
Free PMC article.