Article

Retinal Dystrophies Associated with Mutations in the RP1 Gene. Genotype-Phenotype Correlations.

2024-05-29

Abstract excerpt

<h4>Background: </h4> We evaluate the genetic and phenotypic features of a cohort of 12 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants.; Methods: Retrospective, single center study (Careggi Hospital, Florence), including a cohort of twelve Italian patients (Five male and seven female) affected by RP carrying pathogenic variants of the RP1 gene. A complete ophthalmic as...

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Literature Corpus work: 2b38612b-f040-5a34-b2d9-4d43f6055794
DOI: 10.20944/preprints202405.1901.v1

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