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Article

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.

American journal of ophthalmology - 1 Nov 2024

Bodenbender Jan-Philipp, Bethge Leon, Stingl Katarina, Mazzola Pascale, Haack Tobias, Biskup Saskia, Wissinger Bernd, Weisschuh Nicole, Kohl Susanne, Kühlewein Laura

Abstract excerpt

PURPOSE: The purpose of our study was to assess the phenotypic and genotypic spectrum in a large cohort of patients with PRPF31-associated retinal dystrophy. DESIGN: Retrospective cohort study. METHODS: In this retrospective chart review study, we collected cross-sectional data on the phenotype and genotype of patients with PRPF31-associated retinal dystrophy from the clinics for inherited retinal dystrophies at...

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Identifiers

PMID: 38909744
DOI: 10.1016/j.ajo.2024.06.020

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