Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Abstract
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 can affect management options, cardiac surveillance in relatives and reproductive decision-making. In this study, we sought to identify the underlying genetic defect in a patient born to consanguineous parents with...
Paper Details
Title
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Published Date
Sep 7, 2019
Journal
Volume
57
Issue
1
Pages
23 - 30
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History