Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 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 PKD1 and PKD2 heterozygous variants. Nonetheless, the extensive phenotypic variability observed among affected individuals, even within the same family, suggests a more com...

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Detalles Bibliográficos
Autores principales: Graziani, Ludovico, Zampatti, Stefania, Carriero, Miriam Lucia, Minotti, Chiara, Peconi, Cristina, Bengala, Mario, Giardina, Emiliano, Novelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454652/
https://www.ncbi.nlm.nih.gov/pubmed/37628640
http://dx.doi.org/10.3390/genes14081589

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