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Article

Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.

BMJ open ophthalmology - 25 Mar 2025

Banjak Malak, Noureldine Jinane, Mousawi Zahraa, Nehme Joseph, Jaffal Lama, El Shamieh Said

Abstract excerpt

BACKGROUND AND OBJECTIVES: CRX-associated retinal dystrophies (CRX-RDs) exhibit significant genotype-phenotype heterogeneity. This study aimed to elucidate the genotype-phenotype associations of CRX through a systematic analysis of the reported cases. METHODS: 84 studies, including 373 worldwide participants, were reviewed. These studies were checked for quality using Murad's tool for methodological quality and...

Read the complete abstract on PubMed

Topics

Humans
Genetic Association Studies
Homeodomain Proteins
Retinal Dystrophies
Phenotype
Trans-Activators

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Genotype

Source

Open in PubMed Open full text

Identifiers

PMID: 40132901
DOI: 10.1136/bmjophth-2024-002030
PMCID: PMC11938251

Genes

CRX

Provenance

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