Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review

INTRODUCTION: Inherited retinal dystrophies (IRDs) represent a genetically diverse group of progressive, visually debilitating diseases. Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically...

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Detalles Bibliográficos
Autores principales: Sallum, Juliana M. F., Kaur, Vinay Preet, Shaikh, Javed, Banhazi, Judit, Spera, Claudio, Aouadj, Celia, Viriato, Daniel, Fischer, M. Dominik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Healthcare 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918161/
https://www.ncbi.nlm.nih.gov/pubmed/35098484
http://dx.doi.org/10.1007/s12325-021-02036-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918161/
https://www.ncbi.nlm.nih.gov/pubmed/35098484
http://dx.doi.org/10.1007/s12325-021-02036-7

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