Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
RBM20
is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of
RBM20
, p.Arg636His, previously reported as pathogenic in several families with DCM, was found in both the proband and...
Alternative Titles
Full title
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_1f622237f2c5447f9071816c09cfc8eb
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1f622237f2c5447f9071816c09cfc8eb
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-022-00183-z
