Article
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Circulation. Genomic and precision medicine - 1 Apr 2024
Amor-Salamanca Almudena, Santana Rodríguez Alfredo, Rasoul Hazhee, Rodríguez-Palomares José F, Moldovan Oana, Hey Thomas Morris, Delgado María Gallego, Cuenca David López, de Castro Campos Daniel, Basurte-Elorz María Teresa, Macías-Ruiz Rosa, Fuentes Cañamero María Eugenia, Galvin Joseph, Bilbao Quesada Raquel, de la Higuera Romero Luis, Trujillo-Quintero Juan Pablo, García-Cruz Loida María, Cárdenas-Reyes Ivonne, Jiménez-Jáimez Juan, García-Hernández Soledad, Valverde-Gómez María, Gómez-Díaz Iria, Limeres Freire Javier, García-Pinilla José M, Gimeno-Blanes Juan R, Savattis Konstantinos, García-Pavía Pablo, Ochoa Juan Pablo
Abstract excerpt
BACKGROUND: Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. This study sought to investigate the association between the...
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