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Article

New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report.

Genes - 27 Sept 2024

Rai Vanya, Singh Manisha, Holthoff Joseph H

Abstract excerpt

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent heritable disorders, characterized by the progressive development of kidney cysts leading to renal failure. It is primarily caused by mutations in the PKD1 and PKD2 genes, which account for approximately 85% and 15% of cases, respectively. This case report describes a previously unreported mutation in the PKD1 gene,...

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Identifiers

PMID: 39457385
DOI: 10.3390/genes15101262
PMCID: PMC11507877

Genes

PKD1
PKD2

Variants

Provenance

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