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Nephronophthisis: a pathological and genetic perspective.
Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Wolf MTF, et al. Pediatr Nephrol. 2024 Jul;39(7):1977-2000. doi: 10.1007/s00467-023-06174-8. Epub 2023 Nov 6. Pediatr Nephrol. 2024. PMID: 37930417 Review.
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve the retina (e.g., with Senior-Loken syndrome), CNS (central nervous system) (e.g., with Joubert syndrome), liver (e.g., …
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve t …
Nephronophthisis.
Salomon R, Saunier S, Niaudet P. Salomon R, et al. Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Pediatr Nephrol. 2009. PMID: 18607645 Free PMC article. Review.
Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causati …
Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cereb …