TY  - GEN
AU  - Mitsuhashi,Satomi
AU  - Boyden,Steven E
AU  - Estrella,Elicia A
AU  - Jones,Takako I
AU  - Rahimov,Fedik
AU  - Yu,Timothy W
AU  - Darras,Basil T
AU  - Amato,Anthony A
AU  - Folkerth,Rebecca D
AU  - Jones,Peter L
AU  - Kunkel,Louis M
AU  - Kang,Peter B
TI  - Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
SN  - 1873-2364
PY  - 2014///0724
KW  - Adolescent
KW  - Chromosomal Proteins, Non-Histone
KW  - genetics
KW  - Cytokines
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Family Health
KW  - Humans
KW  - Male
KW  - Muscular Dystrophy, Facioscapulohumeral
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2013.08.009
ER  -