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Article

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Genes - 2 Sept 2024

Trastulli Giulia, Megalizzi Domenica, Calvino Giulia, Andreucci Sarah, Zampatti Stefania, Strafella Claudia, Caltagirone Carlo, Giardina Emiliano, Cascella Raffaella

Abstract excerpt

Autosomal dominant retinitis pigmentosa (AD-RP) is caused by several genes, among which RHO is one of the most investigated. This article will be focused on RHO and its role in explaining AD-RP cases in the Italian population, taking advantage of the experience of the Genomic Medicine Laboratory UILDM at the Santa Lucia Foundation IRCCS. The retrospective evaluation of the distribution of RHO variants in the...

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Identifiers

PMID: 39336749
DOI: 10.3390/genes15091158
PMCID: PMC11431160

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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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