Article
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Kidney international - 1 Feb 2020
Hopp Katharina, Cornec-Le Gall Emilie, Senum Sarah R, Te Paske Iris B A W, Raj Sonam, Lavu Sravanthi, Baheti Saurabh, Edwards Marie E, Madsen Charles D, Heyer Christina M, Ong Albert C M, Bae Kyongtae T, Fatica Richard, Steinman Theodore I, Chapman Arlene B, Gitomer Berenice, Perrone Ronald D, Rahbari-Oskoui Frederic F, Torres Vicente E, Harris Peter C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited, progressive nephropathy accounting for 4-10% of end stage renal disease worldwide. PKD1 and PKD2 are the most common disease loci, but even accounting for other genetic causes, about 7% of families remain unresolved. Typically, these unsolved cases have relatively mild kidney disease and often have a negative family history. Mosaicism, due to...
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