Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
PLD1基因的双等位基因功能缺失变异会导致先天性右侧心脏瓣膜缺陷和新生儿心肌病。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI142148
Lahrouchi, Najim; Postma, Alex V; Salazar, Christian M; De Laughter, Daniel M; Tjong, Fleur; Piherová, Lenka; Bowling, Forrest Z; Zimmerman, Dominic; Lodder, Elisabeth M; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Škorić-Milosavljević, Doris; Stránecký, Viktor; Tomek, Viktor; de Knijff, Peter; de Leeuw, Rick; Robinson, Jamille Y; Burn, Sabrina C; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M; Wolf, Barry; Kim, Katherine H; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denommé-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C; Ten Harkel, Arend DJ; Manten, Gwendolyn Tr; Dutman, Annemiek C; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs We; Herkert, Johanna C; Brown, H Alex; Elpeleg, Orly; van den Hoff, Maurice Jb; Mulder, Barbara; Airola, Michael V; Kmoch, Stanislav; Barnett, Joey V; Clur, Sally-Ann; Frohman, Michael A; Bezzina, Connie R