Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

著者: Sarah R. Senum, Ying Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana Gregory, Ruxandra Neatu, Timothy L. Kline, Marie‐Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry Watnick, Dorien J.M. Peters, Albert Ong, Peter J. Conlon, Ronald D. Perrone, Émilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Peter C. Harris - The American Journal of Human Genetics 2021 被引用: 168