Loss-of-function variants in POPDC2 cause a novel autosomal recessive syndrome with sinus node disease and AV conduction defects in combination with hypertrophic cardiomyopathy

Michele Nicastro, Alexa Vermeer,Pieter Postema, Forrest Bowling,Rafik Tadros, Alex Postma,Elisabeth Lodder, Karel van Duijvenboden, Rob Zwart,Leander Beekman, Paul van der Zwaag,Yasmine Aguib, Mona Allouba,Luis Santome, David Deuna, Lorenzo Monserrat,Francesco Fortunato,Giacomo Comi, Dario Ronchi,Peter van Tintelen,Michael Airola, Imke Christiaans,Arthur Wilde,Ronald Wilders, Sally-ann Clur,Arie Verkerk, Connie R. Bezzina,Najim Lahrouchi

EUROPEAN JOURNAL OF HUMAN GENETICS(2024)

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