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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
Open access Jul 2026

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy

Two recurrent canonical splice-site variants identified in patients with HCM from the Emilia-Romagna region of Northern Italy represent novel founder alleles associated with HCM in Northern Italy, and identification improves molecular diagnosis, family screening, and supports the development of variant-targeted therape...

C. Cristalli, M. Schiavo, M. R. S. Foti et al. · 0 citations

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