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

Lemmers, R.J.L.F.; Boogaard, M.L. van den; Vliet, P.J. van der; Donlin-Smith, C.M.; Nations, S.P.; Ruivenkamp, C.A.L.; ... ; Maarel, S.M. van der (2015)

Article / Letter to editor

• FSHD
• SMCHD1
• epigenetic modifier
• D4Z4
• epiallele

• All authors: Lemmers, R.J.L.F.; Boogaard, M.L. van den; Vliet, P.J. van der; Donlin-Smith, C.M.; Nations, S.P.; Ruivenkamp, C.A.L.; Heard, P.; Bakker, B.; Tapscott, S.; Cody, J.D.; Tawil, R.; Maarel, S.M. van der
• Date: 2015-07-31
• Journal: Human Mutation
• Volume: 36
• Issue: 7
• Pages: 679 - 683
• DOI: doi:10.1002/humu.22792