Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation

Conclusions
These cases highlight the phenotypic variability associated with the NPHS2 R229Q variant plus pathogenic mutation. Individuals may present with early aggressive disease.

Source: CKJ: Clinical Kidney Journal - September 24, 2015 Category: Urology & Nephrology Authors: Phelan, P. J., Hall, G., Wigfall, D., Foreman, J., Nagaraj, S., Malone, A. F., Winn, M. P., Howell, D. N., Gbadegesin, R. Tags: HEREDITARY AND RARE NEPHROPATHIES Source Type: research