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

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 CUBN status may allow fo...

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Detalles Bibliográficos
Autores principales: Shi, Vivian, Stein, Quinn, Clark, Dinah, Punj, Sumit, Kremsdorf, Robin, Faizan, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258721/
https://www.ncbi.nlm.nih.gov/pubmed/37312928
http://dx.doi.org/10.1002/ccr3.7502

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258721/
https://www.ncbi.nlm.nih.gov/pubmed/37312928
http://dx.doi.org/10.1002/ccr3.7502

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