Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases

Polycystic Kidney Diseases (PKDs) consist of a genetically and phenotypically heterogeneous group of inherited disorders characterized by numerous renal cysts. PKDs include autosomal dominant ADPKD, autosomal recessive ARPKD and atypical forms. Here, we analyzed 255 Italian patients using an NGS pan...

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Detalles Bibliográficos
Autores principales: Nigro, Ersilia, Amicone, Maria, D’Arco, Daniela, Sellitti, Gina, De Marco, Oriana, Guarino, Maria, Riccio, Eleonora, Pisani, Antonio, Daniele, Aurora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298188/
https://www.ncbi.nlm.nih.gov/pubmed/37372416
http://dx.doi.org/10.3390/genes14061236

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