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ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.
Bermúdez-Jiménez FJ, Carriel V, Santos-Mateo JJ, Fernández A, García-Hernández S, Ramos KA, Piqueras-Flores J, Cabrera-Romero E, Barriales-Villa R, de la Higuera Romero L, Alcalá López JE, Gimeno Blanes JR, Sánchez-Porras D, Campos F, Alaminos M, Oyonarte-Ramírez JM, Álvarez M, Tercedor L, Brodehl A, Jiménez-Jáimez J. Bermúdez-Jiménez FJ, et al. Among authors: ramos ka. Rev Esp Cardiol (Engl Ed). 2023 May;76(5):301-311. doi: 10.1016/j.rec.2022.08.002. Epub 2022 Aug 8. Rev Esp Cardiol (Engl Ed). 2023. PMID: 35952944 English, Spanish.
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