: We chronicle the diagnostic journey of a young patient suffering from severe arrhythmias and left ventricular hypertrophy, for which, after about 15 years of inconclusive genetic testing, a definitive diagnosis was made possible by finding an undescribed homozygous variant in POPDC2, a gene recently associated with CCDs and HCM.
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy / Ciccone, M.P., Panfili, F.M., Bacigalupo, F., Brusco, F., Florean, L., Lo Re, F., Bottillo, I.. - In: CLINICAL GENETICS. - ISSN 1399-0004. - (2025). [10.1111/cge.70131]
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy
Ciccone, Maria PiaPrimo
;Panfili, Filippo Maria
;Bacigalupo, Francesca;Brusco, Francesca;Re, Federica;Bottillo, IreneUltimo
2025
Abstract
: We chronicle the diagnostic journey of a young patient suffering from severe arrhythmias and left ventricular hypertrophy, for which, after about 15 years of inconclusive genetic testing, a definitive diagnosis was made possible by finding an undescribed homozygous variant in POPDC2, a gene recently associated with CCDs and HCM.File allegati a questo prodotto
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