Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant alleles with reduced expression. Hypomorphic alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement. The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from allele combinations.
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| http://dx.doi.org/10.34067/KID.0000000000000064 | DOI Listing |
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