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

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 RBM20....

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Detalles Bibliográficos
Autores principales: Sun, Qiqing, Guo, Jun, Hao, Chanjuan, Guo, Ruolan, Hu, Xuyun, Chen, Yuanying, Yang, Weili, Li, Wei, Feng, Yingjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331393/
https://www.ncbi.nlm.nih.gov/pubmed/32851336
http://dx.doi.org/10.1002/ped4.12183

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