A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

Abstract Background Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss‐of‐function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants...

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Bibliographic Details
Main Authors: Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CASZ1 variant
DCM
LVNC
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.828

Internet

https://doi.org/10.1002/mgg3.828

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