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Article

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2020

Schönauer Ria, Baatz Sebastian, Nemitz-Kliemchen Melanie, Frank Valeska, Petzold Friederike, Sewerin Sebastian, Popp Bernt, Münch Johannes, Neuber Steffen, Bergmann Carsten, Halbritter Jan

Abstract excerpt

PURPOSE: Autosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This study aimed at assessing the diagnostic value of genetic verification in clinical ADPKD. METHODS: In this prospective,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32398770
DOI: 10.1038/s41436-020-0816-3
PMCID: PMC7394878

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