Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation

PURPOSE: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. OBSERVATIONS: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine ex...

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Detalles Bibliográficos
Autores principales: Moussa, Michael T., Scoles, Drew, Branham, Kari, Fahim, Abigail T., Capone, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562444/
https://www.ncbi.nlm.nih.gov/pubmed/36247208
http://dx.doi.org/10.1016/j.ajoc.2022.101718

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