Case report
Open access
Jul 2026
Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report
A rare compound heterozygous mutation in the NPHP4 gene is identified by employing whole exome sequencing and Sanger sequencing and contributes to the precise diagnosis of the patient and underscores the utility of genetic testing in the accurate diagnosis of NPHP.
Wang Li, Gao-Hui Cao, Nan-Nan Li et al.
· Frontiers in Pediatrics · 0 citations