Article
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Molecular genetics & genomic medicine - 1 May 2023
Lenarduzzi Stefania, Spedicati Beatrice, Alessandrini Beatrice, Tesolin Paola, Paldino Alessia, Gigli Marta, Sinagra Gianfranco, Gasparini Paolo, Ferro Matteo Dal, Girotto Giorgia
Abstract excerpt
BACKGROUND: Hereditary cardiovascular diseases comprise several different entities. In this study, we focused on cardiomyopathies (i.e., hypertrophic, dilated, arrhythmogenic, and left ventricular non-compaction), channelopathies (i.e., Brugada syndrome and long QT syndrome), and aortopathies and pulmonary arterial hypertension (i.e., thoracic/abdominal aortic aneurysm and pulmonary arterial hypertension), and...
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