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Article

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.

American journal of ophthalmology - 1 Aug 2023

Wang Junwen, Li Shiqiang, Jiang Yi, Wang Yingwei, Ouyang Jiamin, Yi Zhen, Sun Wenmin, Jia Xiaoyun, Xiao Xueshan, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthisis. This study aimed to evaluate whether different phenotypes are associated with different variants or subsets of 10 SLSN-associated genes based on an in-house data set and a literature review. DESIGN: Retrospective case series. METHODS: Patients with biallelic variants in SLSN-associated...

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Identifiers

PMID: 36990420
DOI: 10.1016/j.ajo.2023.03.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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