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Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.

Annual review of medicine - 27 Jan 2023

Elliott Mark D, Rasouly Hila Milo, Gharavi Ali G

Abstract excerpt

Hundreds of different genetic causes of chronic kidney disease are now recognized, and while individually rare, taken together they are significant contributors to both adult and pediatric diseases. Traditional genetics approaches relied heavily on the identification of large families with multiple affected members and have been fundamental to the identification of genetic kidney diseases. With the increased...

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PMID: 36375470
DOI: 10.1146/annurev-med-042921-101813

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