Beyond the Kidney: A Systematic Review of Extrarenal Manifestations in MAPKBP1-Related Nephronophthisis
Nephronophthisis type 20 (NPHP20; MIM #617271) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in MAPKBP1. Although traditionally considered a kidney-restricted disorder, recent findings suggest that MAPKBP1-related disease may be associated with a broader spectrum of extrarenal manifesta...