Litcius/Paper detail

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

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

2021The American Journal of Human Genetics168 citationsDOIOpen Access PDF

Topics & Concepts

PKD1Autosomal dominant polycystic kidney diseaseCiliopathyCiliopathiesPolycystic kidney diseaseCystic kidney diseaseCiliumBiologyGeneticsProbandExome sequencingGenetic heterogeneityPhenotypeMutationKidneyGeneGenetic and Kidney Cyst DiseasesRenal and related cancersEpigenetics and DNA Methylation