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Article

Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.

Molecular vision - 1 Jan 2025

de Freitas Cenachi Sarah Pereira, Frasson Maria, Marques Nascentes Anna Laura, Albuquerque Anna Luiza Braga, Arantes Rodrigo Rezende, Mares Virgínia, De Marco Luiz Armando Cunha, Nehemy Márcio Bittar

Abstract excerpt

Purpose: To identify causative genetic variants and associated clinical phenotypes in patients of a tertiary referral center in Brazil with suspected retinitis pigmentosa (RP). Methods: RP diagnosis was established based on predefined clinical criteria. The patients underwent detailed ophthalmologic assessments and multimodal retinal imaging. Genomic DNA was analyzed using a next-generation sequencing (NGS) panel...

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

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Identifiers

PMID: 41867384
PMCID: PMC13002941

Genes

RHO
RPGR
USH2A

Provenance

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