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Title
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Authors
Lemmers RJ; Tawil R; Petek LM; Balog J; Block GJ; Santen GW; Amell AM; van der Vliet PJ; Almomani R; Straasheijm KR; Krom YD; Klooster R; Sun Y; den Dunnen JT; Helmer Q; Donlin-Smith CM; Padberg GW; van Engelen BG; de Greef JC; Aartsma-Rus AM; Frants RR; de Visser M; Desnuelle C; Sacconi S; Filippova GN; Bakker B; Bamshad MJ; Tapscott SJ; Miller DG; van der Maarel SM