Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death

The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not freq...

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Bibliographic Details
Main Authors: Paula Morlanes-Gracia, Guido Antoniutti, Jorge Alvarez-Rubio, Laura Torres-Juan, Damian Heine-Suñer, Tomás Ripoll-Vera
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2021.691203/full