Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Author(s):
Boogaard, M.L. van den; Lemmers, R.J.F.L.; Camano, P.; Vliet, P.J. van der; Voermans, N.; Engelen, B.G.M. van; Munain, A.L. de; Tapscott, S.J.; Stoep, N. van der; Tawil, R.; Maarel, S.M. van der (0000-0001-8103-711X)
Published
2016
Publication type
Article / Letter to editor
Date issued
2016-01-31
Language
English
Is part of
European Journal of Human Genetics (2016), Vol. 24, no. 1, p. 78-85
hdl
1887/107398
doi
10.1038/ejhg.2015.55