Böhm J et al.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics 2018, vol. 56, issu 9
doi: 10.1136/jmedgenet-2018-105390
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Böhm J et al.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics 2018, vol. 56, issu 9
doi: 10.1136/jmedgenet-2018-105390