Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant
Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant
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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
TNNI3
is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in
TNNI3
, NM_000363.5:c.583A>T (p.Ile195Phe), which was determined to be t...
Alternative Titles
Full title
Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant
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TN_cdi_doaj_primary_oai_doaj_org_article_e20a70276a7444f1912d67510530a6d5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e20a70276a7444f1912d67510530a6d5
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-024-00272-1
