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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...
Autores principales: | Rasmussen, Maria, Nielsen, Marlene Louise, Manak, J Robert, Mogensen, Helle, Lildballe, Dorte L |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
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 |
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