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Article

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

Genes - 20 Apr 2024

Holanda Ianne Pessoa, Rim Priscila Hae Hyun, Rare Genomes Project Consortium, Guaragna Mara Sanches, Gil-da-Silva-Lopes Vera Lúcia, Steiner Carlos Eduardo

Abstract excerpt

Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated,...

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Source

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Identifiers

PMID: 38674450
DOI: 10.3390/genes15040516
PMCID: PMC11050127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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