Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey-Reference-Cited by-同舟云学术

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Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey

Published:2024-06-07 Issue: Volume: Page:1-10
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Bonneau Steven¹²,Kulbay Merve¹³,Kahn-Ali Shigufa⁴,Qian Cynthia X.¹³

Affiliation:

1. Centre de recherche de l’Hôpital Maisonneuve-Rosemont, Centre Universitaire affilié à l’Université de Montréal, Montréal, Québec, Canada

2. Department of Surgery, Division of Ophthalmology, University of Sherbrooke, Sherbrooke, Québec, Canada

3. Department of Ophthalmology & Visual Sciences, McGill University, Montreal, Quebec, Canada

4. Department of Ophthalmology, Centre Universitaire d’Ophtalmologie (CUO), Hôpital Maisonneuve-Rosemont, University of Montreal, Montréal, Québec, Canada

Funder

Choroideremia Research Foundation and the Fonds de recherche en ophtalmologie de l’Université de Montréal

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2357705

Reference31 articles.

1. Choroideremia: A review of general findings and pathogenesis

2. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

3. Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results

4. Two-Year Results After AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience

5. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

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