Mutation Analysis of &lt;i&gt;PKD1&lt;/i&gt; and &lt;i&gt;PKD2&lt;/i&gt; Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement

Silvia Orisio; Marina Noris; Miriam Rigoldi; Elena Bresin; Norberto Perico; Matias Trillini; Roberta Donadelli; Annalisa Perna; Ariela Benigni; Giuseppe Remuzzi

doi:10.1159/000530657

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Giuseppe Remuzzi

Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement

Article 2023 en

Authors

SO
Silvia Orisio
MN
Marina Noris
MR
Miriam Rigoldi

Abstract

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Comprehensive genetic testing confirms its utility in diagnosing patients with ADPKD and contributes to explaining the clinical heterogeneity observed in this disease. Moreover, the genotype-phenotype correlation can allow for a more accurate disease prognosis.

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Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement

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