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

Autor: Senum, S.R., Li, Y.M., Benson, K.A., Joli, G., Olinger, E., Lavu, S., Madsen, C.D., Gregory, A.V., Neatu, R., Kline, T.L., Audrezet, M.P., Outeda, P., Nau, C.B., Meijer, E., Ali, H., Steinman, T.I., Mrug, M., Phelan, P.J., Watnick, T.J., Peters, D.J.M., Ong, A.C.M., Conlon, P.J., Perrone, R.D., Gall, E.C.L., Hogan, M.C., Torres, V.E., Saver, J.A., Harris, P.C., Genomics England Res Consortium, HALT PKD, CRISP, DIPAK, ADPKD Modifier, TAME PKD studies

Publikováno v: Am J Hum Genet
American Journal of Human Genetics, 109(1), 136-156. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2022, 109 (1), pp.136-156. ⟨10.1016/j.ajhg.2021.11.016⟩

International audience; Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183928f9db35fd45f0abc517af272c58
https://pubmed.ncbi.nlm.nih.gov/34890546