Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
scientific article (publication date: 11 November 2012)
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author: Marianne de Visser, Yu Sun, Bert Bakker, Daniel G. Miller, Sabrina Sacconi, Silvère M van der Maarel, Rune Frants, George W. Padberg, Baziel van Engelen, Rabi Tawil, Quinta Helmer, Yvonne D Krom, Patrick J van der Vliet, Stephen J Tapscott, Richard J L F Lemmers, Judit Balog, Kirsten R Straasheijm, Rinse Klooster, Jessica C de Greef, Johan T Den Dunnen
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