Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
POPDC2基因的双等位基因变异会导致一种常染色体隐性遗传综合征，其特征为心脏传导缺陷和肥厚型心肌病。
期刊:American Journal of Human Genetics
影响因子:
doi:10.1016/j.ajhg.2025.04.016
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
