Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Mitsuhashi, Satomi, Steven Boyden, Elicia Estrella, Takako Jones, Fedik Rahimov, Timothy Yu, Basil Darras, et al. 2013. “Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2.”. Neuromuscul Disord 23 (12): 975-80.