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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: harris pc. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Haplotype analysis in autosomal dominant polycystic kidney disease.
Pound SE, Thomas S, Snarey A, Macnicol AM, Watson ML, Pignatelli PM, Frischauf AM, Harris PC, Wright AF. Pound SE, et al. Among authors: harris pc. J Med Genet. 1995 Mar;32(3):208-12. doi: 10.1136/jmg.32.3.208. J Med Genet. 1995. PMID: 7783171 Free PMC article.
389 results