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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Detalles Bibliográficos
Autores principales: Morlanes-Gracia, Paula, Antoniutti, Guido, Alvarez-Rubio, Jorge, Torres-Juan, Laura, Heine-Suñer, Damian, Ripoll-Vera, Tomás
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280289/
https://www.ncbi.nlm.nih.gov/pubmed/34277740
http://dx.doi.org/10.3389/fcvm.2021.691203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280289/
https://www.ncbi.nlm.nih.gov/pubmed/34277740
http://dx.doi.org/10.3389/fcvm.2021.691203

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