Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
IFT140单等位基因致病变异是常染色体显性多囊肾表型的重要病因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.11.016
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