Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
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Author / Creator
Almomani, Rowida , Herkert, Johanna C , Posafalvi, Anna , Post, Jan G , Boven, Ludolf G , van der Zwaag, Paul A , Willems, Peter H G M , van Veen-Hof, Ingrid H , Verhagen, Judith M A , Wessels, Marja W , Nikkels, Peter G J , Wintjes, Liesbeth T , van den Berg, Maarten P , Sinke, Richard J , Rodenburg, Richard J , Niezen-Koning, Klary E , van Tintelen, J Peter and Jongbloed, Jan D H
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundIdiopathic 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...
Alternative Titles
Full title
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Authors, Artists and Contributors
Author / Creator
Herkert, Johanna C
Posafalvi, Anna
Post, Jan G
Boven, Ludolf G
van der Zwaag, Paul A
Willems, Peter H G M
van Veen-Hof, Ingrid H
Verhagen, Judith M A
Wessels, Marja W
Nikkels, Peter G J
Wintjes, Liesbeth T
van den Berg, Maarten P
Sinke, Richard J
Rodenburg, Richard J
Niezen-Koning, Klary E
van Tintelen, J Peter
Jongbloed, Jan D H
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2348237148
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2348237148
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106330
