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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kalayinia, Samira, Dalili, Mohammad, Pourirahim, Maryam, Maleki, Majid, Mahdieh, Nejat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
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

Internet

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

Ejemplares similares