Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of <i>PKD1</i> Hypomorphic Alleles

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of <i>PKD1</i> Hypomorphic Alleles

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 &...

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Bibliographic Details
Main Authors: Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
ADPKD
hypomorphic variants
disease modifiers
biallelic inheritance
<i>PKD1</i>
<i>PKD2</i>
Online Access:https://www.mdpi.com/2073-4425/14/6/1230

Internet

https://www.mdpi.com/2073-4425/14/6/1230

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