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Article

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.

Genes - 7 Jun 2023

Ambrosini Enrico, Montanari Francesca, Cristalli Carlotta Pia, Capelli Irene, La Scola Claudio, Pasini Andrea, Graziano Claudio

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure in adult life. Rarely, ADPKD can be diagnosed in utero or in infancy, and the genetic mechanism underlying such severe presentation has been shown to be related to reduced gene dosage. Biallelic PKD1 variants are often identified in early onset ADPKD, with one main pathogenic variant and a modifier hypomorphic...

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Identifiers

PMID: 37372410
DOI: 10.3390/genes14061230
PMCID: PMC10298634

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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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