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Article

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.

International journal of molecular sciences - 3 Mar 2026

Butnariu Lăcrămioara Ionela, Russu Radu, Babici Ramona Geanina, Băgiag Aurora, Trandafir Laura Mihaela, Țarcă Elena, Popovici Paula, Gimiga Nicoleta, Starcea Iuliana Magdalena

Abstract excerpt

Globally, chronic kidney disease (CKD) affects over 800 million individuals and is characterized by significant genetic complexity. More than 600 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hepatocyte Nuclear Factor 1-beta

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Share to Renal Insufficiency, Chronic

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Source

Open in PubMed Open full text

Identifiers

PMID: 41828581
DOI: 10.3390/ijms27052362
PMCID: PMC12986390

Genes

COL4A3
COL4A5
HNF1B
PKD1
PKD2
SLC12A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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