Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to ACR in 40% of cases. Other genes encoding nondesmosomal proteins have bee...

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Detalles Bibliográficos
Autores principales: Goudal, Adeline, Karakachoff, Matilde, Lindenbaum, Pierre, Baron, Estelle, Bonnaud, Stéphanie, Kyndt, Florence, Arnaud, Marine, Minois, Damien, Bourcereau, Emmanuelle, Thollet, Aurélie, Deleuze, Jean‐François, Genin, Emmanuelle, Wiart, François, Pasquié, Jean‐Luc, Galand, Vincent, Sacher, Frédéric, Dina, Christian, Redon, Richard, Bezieau, Stéphane, Schott, Jean‐Jacques, Probst, Vincent, Barc, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544292/
https://www.ncbi.nlm.nih.gov/pubmed/35819174
http://dx.doi.org/10.1002/humu.24436

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