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Article

Diagnosis of monogenic chronic kidney diseases

31 Dec 2018

Abstract excerpt

PURPOSE OF REVIEW: The purpose of this review is to emphasize that single gene disorders are an important and sometimes unrecognized cause of progressive chronic kidney disease. We provide an overview of the benefits of making a genetic diagnosis, the currently available genetic testing methods and examples of diseases illustrating the impact of a genetic diagnosis. RECENT FINDINGS: Although there are now a...

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PMID: 30601180
DOI: 10.1097/mnh.0000000000000486

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