Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients

ConclusionsFifteen causative genes were detected in 85 Chinese pediatric patients with kidney stone diseases. The most common mutant genes, novel mutations, hotspot mutations, and genotype –phenotype correlations were also found. This study contributes to the understanding of genetic profiles and clinical courses in pediatric patients with hereditary nephrolithiasis.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research