Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Author(s):: Lemmers, R.J.L.F.; Vliet, P.J. van der; Balog, J.; Goeman, J.J.; Arindrarto, W.; Krom, Y.D.; Straasheijm, K.R.; Debipersad, R.D.; Ozel, G.; Sowden, J.; Snider, L.; Mul, K.; Sacconi, S.; Engelen, B. van; Tapscott, S.J.; Tawil, R.; Maarel, S.M. van der (0000-0001-8103-711X)

Published: 2018
Publication type: Article / Letter to editor

Date issued: 2018-01-31
Language: English
Is part of: European Journal of Human Genetics (2018), Vol. 26, no. 1, p. 94-106
hdl: 1887/75322
doi: 10.1038/s41431-017-0015-0
URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838976/