Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

Key Clinical Message We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the CUBN gene. The CUBN‐related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of CUB...

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Autors principals:	Vivian Shi, Quinn Stein, Dinah Clark, Sumit Punj, Robin Kremsdorf, Mohammed Faizan
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2023-06-01
Col·lecció:	Clinical Case Reports
Matèries:	cubilin gene genetic testing kidney monogenic persistent proteinuria
Accés en línia:	https://doi.org/10.1002/ccr3.7502
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