Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile...
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the
and
genes. The first patient is a female proband exhibiting hypertrophic cardiomyopathy (HCM) and biventricular heart failure carrying a truncating homozygous
variant...
Alternative Titles
Full title
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10048717
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10048717
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes14030659
