Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

Richard J L F Lemmers, Marlinde L. van den Boogaard, Patrick J. van der Vliet, Colleen M. Donlin-Smith, Sharon P. Nations, Claudia A L Ruivenkamp, Patricia Heard, Bert Bakker, Stephen Tapscott, Jannine D. Cody, Rabi Tawil, Silvère M. van der Maarel

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19 Scopus citations

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