Which genetic factor affects the severity of autosomal dominant polycystic kidney disease (ADPKD)?

Updated: Mar 24, 2020
  • Author: Roser Torra, MD, PhD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

There is a genotype-phenotype correlation for PKD1, with truncating mutations causing a more severe phenotype than non-truncating ones. [15]


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