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Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly
Ebstein’s anomaly is a rare congenital heart disease characterized by tricuspid valve downward displacement and is associated with additional cardiac phenotypes such as left ventricle non-compaction. The genetic basis of Ebstein’s anomaly has yet to be fully elucidated, although several genes (e.g.,...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450520/ https://www.ncbi.nlm.nih.gov/pubmed/37635785 http://dx.doi.org/10.1016/j.xhgg.2023.100227 |