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A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1
BACKGROUND: Inherited primary arrhythmias, such as long QT (LQT) syndromes, are electrical abnormalities of the heart mainly due to variants in 3 genes. We herein describe a novel stop-gain pathogenic variant in the KCNQ1 gene in an Iranian child with LQT syndrome 1. METHODS: The patient and his fam...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9835262/ https://www.ncbi.nlm.nih.gov/pubmed/36635780 http://dx.doi.org/10.1186/s40001-023-00984-0 |