Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

Satomi Mitsuhashi, Steven E. Boyden, Elicia A. Estrella, Takako I. Jones, Fedik Rahimov, Timothy W. Yu, Basil T. Darras, Anthony A. Amato, Rebecca D. Folkerth, Peter L. Jones, Louis M. Kunkel, Peter B. Kang

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