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Anita Luberto

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Review Open access Sep 2026

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...

Enrico Ambrosini, Anita Luberto, Sabrina Busciglio et al. · 0 citations

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