PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability

Pathogenic variants in PAX2 have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction, duplex kidney with hydronephrosis of upper pole system and b...

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Detalles Bibliográficos
Autores principales: Rasmussen, Maria, Nielsen, Marlene Louise, Manak, J Robert, Mogensen, Helle, Lildballe, Dorte L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Exceptional Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886549/
https://www.ncbi.nlm.nih.gov/pubmed/33623695
http://dx.doi.org/10.1093/ckj/sfaa013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886549/
https://www.ncbi.nlm.nih.gov/pubmed/33623695
http://dx.doi.org/10.1093/ckj/sfaa013

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