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Article

Clinical and molecular findings in children with retinitis pigmentosa.

Ophthalmic genetics - 1 Oct 2024

Li Cheng, Zhang Chengyue, Bai Dayong, Cui Yanhui

Abstract excerpt

PURPOSE: To study the clinical and genetic features of a cohort of RP children. METHODS: We identified 46 RP patients with pathogenic or likely pathogenic mutations among 96 patients with a clinical diagnosis of retinitis pigmentosa. All of the patients underwent comprehensive clinical examinations and genetic testing. A retrospective study was conducted on 46 children with retinitis pigmentosa. The genetic and...

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Electroretinography
Eye Proteins
Genes, X-Linked
GTP-Binding Proteins
Infant
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinitis Pigmentosa

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Identifiers

PMID: 39206744
DOI: 10.1080/13816810.2024.2357305

Genes

RPGR
RP2
RPE65

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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