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Article

Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study.

Journal of medical genetics - 31 Dec 2024

Wang Mo-Ying, Gao Feng-Juan, Ju Yu-Qiao, Guo Lin-Ying, Duan Cong, Chang Qing, Zhang Ting, Xu Ge-Zhi, Du Hui, Zong Yuan, Huang Xin

Abstract excerpt

BACKGROUND: To delineate the clinical and mutational signatures of patients with CRB1-associated retinopathies. METHODS: This multicentre retrospective cohort study involved 40 patients with CRB1 mutations and 40 age-matched and gender-matched inherited retinal diseases (IRDs). The detailed phenotyping and genotyping characteristics and genotype‒phenotype correlations of the patients were analysed. RESULTS: The...

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Identifiers

PMID: 39496395
DOI: 10.1136/jmg-2024-110289

Genes

CRB1

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