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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

BackgroundFamilial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 genes that encode proteins in sarcomeres, nuclear la...

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Hoofdauteurs: Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2023-09-01
Reeks:Frontiers in Cardiovascular Medicine
Onderwerpen:
dilated cardiomyopathy
cardiomyopathy
genetic testing
next generation sequencing
diagnostic yield
Online toegang:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1254272/full
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