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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主要な著者:	Vivian Shi, Quinn Stein, Dinah Clark, Sumit Punj, Robin Kremsdorf, Mohammed Faizan
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2023-06-01
シリーズ:	Clinical Case Reports
主題:	cubilin gene genetic testing kidney monogenic persistent proteinuria
オンライン･アクセス:	https://doi.org/10.1002/ccr3.7502
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