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Article

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

PloS one - 1 Jan 2020

Obeidova Lena, Seeman Tomas, Fencl Filip, Blahova Kveta, Hojny Jan, Elisakova Veronika, Reiterova Jana, Stekrova Jitka

Abstract excerpt

Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and the final diagnosis is often difficult to be made. Next-generation sequencing (NGS) may help the clinicians to find the correct final diagnosis. The aim of our study was to test the diagnostic yield of NGS and its ability to improve the diagnosis precision...

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Identifiers

PMID: 32574212
DOI: 10.1371/journal.pone.0235071
PMCID: PMC7310724

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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