Article
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
Revista espanola de cardiologia (English ed.) - 1 Jul 2018
Fernández Luis, Tenorio Jair, Polo-Vaquero Coral, Vallespín Elena, Palomares-Bralo María, García-Miñaúr Sixto, Santos-Simarro Fernando, Arias Pedro, Carnicer Hernán, Giannivelli Silvina, Medina Juan, Pérez-Piaya Rosa, Solís Jorge, Rodríguez Mónica, Villagrá Alexandra, Rodríguez Laura, Nevado Julián, Martínez-Glez Víctor, Heath Karen E, Lapunzina Pablo
Abstract excerpt
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has...
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