Co-Inheritance of Pathogenic Variants in <i>PKD1</i> and <i>PKD2</i> Genes Determined by Parental Segregation and De Novo Origin: A Case Report

Co-Inheritance of Pathogenic Variants in <i>PKD1</i> and <i>PKD2</i> Genes Determined by Parental Segregation and De Novo Origin: A Case Report

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, and it is typically caused by <i>PKD1</i> and <i>PKD2</i> heterozygous variants. Nonetheless, the extensive phenotypic variability observed among affected individuals, even withi...

Full description

Bibliographic Details
Main Authors: Ludovico Graziani, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina, Giuseppe Novelli
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
ADPKD
<i>PKD1/2</i>
digenic disease
genotype–phenotype correlations
NGS
Online Access:https://www.mdpi.com/2073-4425/14/8/1589

Internet

https://www.mdpi.com/2073-4425/14/8/1589

Similar Items