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Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD). Genetic testing revealed PKD1 gene intron 11 heterozygous nucleotide varian...

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Detalles Bibliográficos
Autores principales: Bucci, Romina, Tunesi, Francesca, De Rosa, Liliana Italia, Carrera, Paola, Mancassola, Giulia, Catania, Martina, Vezzoli, Giuseppe, Sciarrone Alibrandi, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663533/
https://www.ncbi.nlm.nih.gov/pubmed/38028110
http://dx.doi.org/10.1002/ccr3.7917