Portal de Periódicos da CAPES

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

2017; Public Library of Science; Volume: 12; Issue: 8 Linguagem: Inglês

10.1371/journal.pone.0181465

1932-6203

Irene Mademont‐Soler, Jesús Matés, Raquel Yotti, María Ángeles Espinosa, Alexandra Pérez‐Serra, Ana I. Fernández, Mónica Coll, Irene Méndez, Anna Iglesias, Bernat del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Óscar Campuzano, Ferran Picó, Carles Ferrer‐Costa, Patricia Álvarez, Sergio Castillo, Pablo García‐Pavía, Esther González-López, Laura Padrón-Barthe, Aránzazu Díaz de Bustamante, M. Teresa Darnaude, José Ignacio González-Hevia, Josép Brugada, Francisco Fernández‐Avilés, Ramón Brugada,

Williams Syndrome Research

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation.