A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

Abstract 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...

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Bibliographic Details
Main Authors: Samira Kalayinia, Mohammad Dalili, Maryam Pourirahim, Majid Maleki, Nejat Mahdieh
Format: Article
Language:English
Published: BMC 2023-01-01
Series:European Journal of Medical Research
Subjects:
Long QT syndrome 1
Genetic
KCNQ1
Whole-exome sequencing
Variant
Online Access:https://doi.org/10.1186/s40001-023-00984-0

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