Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

Abstract Importance Pathogenic variants in the RBM20 gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, RBM20 was found to be associated with left ventricular non‐compaction cardiomyopathy (LVNC). Thus far, only five families with LVNC have been reported to carry variants in...

Full description

Bibliographic Details
Main Authors: Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Pediatric Investigation
Subjects:
Left ventricular non‐compaction cardiomyopathy
Dilated cardiomyopathy
RNA‐binding motif protein 20
Trio whole‐exome sequencing
Online Access:https://doi.org/10.1002/ped4.12183

Internet

https://doi.org/10.1002/ped4.12183

Similar Items