Article

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

American journal of human genetics - 3 Jul 2025

Nicastro Michele, Vermeer Alexa M C, Postema Pieter G, Tadros Rafik, Bowling Forrest Z, Aegisdottir Hildur M, Tragante Vinicius, Mach Lukas, Postma Alex V, Lodder Elisabeth M, van Duijvenboden Karel, Zwart Rob, Beekman Leander, Wu Lingshuang, Jurgens Sean J, van der Zwaag Paul A, Alders Mariëlle, Allouba Mona, Aguib Yasmine, Santome J Luis, de Una David, Monserrat Lorenzo, Miranda Antonio M A, Kanemaru Kazumasa, Cranley James, van Zeggeren Ingeborg E, Aronica Eleonora M A, Ripolone Michela, Zanotti Simona, Sveinbjornsson Gardar, Ivarsdottir Erna V, Hólm Hilma, Guðbjartsson Daníel F, Skúladóttir Ástrós Th, Stefánsson Kári, Nadauld Lincoln, Knowlton Kirk U, Ostrowski Sisse Rye, Sørensen Erik, Vesterager Pedersen Ole Birger, Ghouse Jonas, Rand Søren A, Bundgaard Henning, Ullum Henrik, Erikstrup Christian, Aagaard Bitten, Bruun Mie Topholm, Christiansen Mette, Jensen Henrik K, Carere Deanna Alexis, Cummings Christopher T, Fishler Kristen, Tørring Pernille Mathiesen, Brusgaard Klaus, Juul Trine Maxel, Saaby Lotte, Winkel Bo Gregers, Mogensen Jens, Fortunato Francesco, Comi Giacomo Pietro, Ronchi Dario, van Tintelen J Peter, Noseda Michela, Airola Michael V, Christiaans Imke, Wilde Arthur A M, Wilders Ronald, Clur Sally-Ann, Verkerk Arie O, Bezzina Connie R, Lahrouchi Najim