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Article

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

American journal of ophthalmology - 1 Apr 2023

Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifang

Abstract excerpt

PURPOSE: To reveal the clinical and genetic features of 54 Chinese pedigrees with syndromic or nonsyndromic retinal dystrophies related to CEP290 and to explore the genotype-phenotype correlation. DESIGN: Retrospective cohort study. METHODS: Patients diagnosed with nonsyndromic inherited retinal dystrophy (IRD) or syndromic ciliopathy (SCP) were enrolled. We identified 61 patients from 54 families carrying...

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Identifiers

PMID: 36493848
DOI: 10.1016/j.ajo.2022.11.023

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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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