Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
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DOI: 10.1136/jmedgenet-2019-106330
Abstract: Background Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this knowledge… read more here.
Keywords: sod2; homozygous damaging; damaging sod2; dilated cardiomyopathy ... See more keywords