RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

PURPOSE: To describe a group of patients with retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy with a tapetal-like retinal sheen and corresponding changes in the reflectivity of the ellipsoid zone on optical coherence tomography (OCT) imaging. METHODS: A retrospective case series of...

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Detalles Bibliográficos
Autores principales: Benson, Matthew D., Mukherjee, Souvick, Agather, Aime R., Blain, Delphine, Cunningham, Denise, Mays, Robert, Sun, Xun, Li, Tiansen, Hufnagel, Robert B., Brooks, Brian P., Huryn, Laryssa A., Zein, Wadih M., Cukras, Catherine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501488/
https://www.ncbi.nlm.nih.gov/pubmed/37695603
http://dx.doi.org/10.1167/iovs.64.12.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501488/
https://www.ncbi.nlm.nih.gov/pubmed/37695603
http://dx.doi.org/10.1167/iovs.64.12.19

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