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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 …
SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y, Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E, Sharon D, Khateb S. Yahalom C, et al. Retina. 2021 Oct 1;41(10):2179-2187. doi: 10.1097/IAE.0000000000003138. Retina. 2021. PMID: 33512896 Review.
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Loken syndrome. METHODS: A retrospective study of patients with Senior-Loken syndrome. ...Full-field elec …
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior- …