Publication
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. 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 J. Watnick, Dorien J.M. Peters, Albert C.M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Peter C. Harris
The American Journal of Human Genetics, January 2022, Elsevier
DOI: 10.1016/j.ajhg.2021.11.016