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Nephronophthisis: a pathological and genetic perspective.
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 …
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[Ciliopathy--cause of several peculiar syndromes].
Stenram U.
Stenram U.
Lakartidningen. 2011 Feb 16-22;108(7):332-5.
Lakartidningen. 2011.
PMID: 21539115
Review.
Swedish.
No abstract available.
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