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Article

Rare genetic causes of complex kidney and urological diseases.

Nature reviews. Nephrology - 1 Nov 2020

Groopman Emily E, Povysil Gundula, Goldstein David B, Gharavi Ali G

Abstract excerpt

Although often considered a single-entity, chronic kidney disease (CKD) comprises many pathophysiologically distinct disorders that result in persistently abnormal kidney structure and/or function, and encompass both monogenic and polygenic aetiologies. Rare inherited forms of CKD frequently span diverse phenotypes, reflecting genetic phenomena including pleiotropy, incomplete penetrance and variable...

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Identifiers

PMID: 32807983
DOI: 10.1038/s41581-020-0325-2
PMCID: PMC7772719

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