Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Titel:
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Auteur:
Senum, Sarah R. Li, Ying (Sabrina) M. Benson, Katherine A. Joli, Giancarlo Olinger, Eric Lavu, Sravanthi Madsen, Charles D. Gregory, Adriana V. Neatu, Ruxandra Kline, Timothy L. Audrézet, Marie-Pierre Outeda, Patricia Nau, Cherie B. Meijer, Esther Ali, Hamad Steinman, Theodore I. Mrug, Michal Phelan, Paul J. Watnick, Terry J. Peters, Dorien J.M. Ong, Albert C.M. Conlon, Peter J. Perrone, Ronald D. Cornec-Le Gall, Emilie Hogan, Marie C. Torres, Vicente E. Sayer, John A. Harris, Peter C.