A boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation of LRP5 and OPA1: A case report

Background: The study aimed to report a boy with familial exudative vitreoretinopathy and amblyopia harboring a new mutation of the LRP5 and OPA1 gene abnormality. Case presentation: A 9-year-old boy presented with a 2-year history of deteriorating visual acuity in the right eye. His best-corrected...

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Detalles Bibliográficos
Autores principales: Chen, Chunli, Guo, Sitong, Zhao, Rui, Liu, Shoubin, Wu, Jingjing, Xiao, Yuanyuan, Hou, Simeng, Jiang, Libin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556980/
https://www.ncbi.nlm.nih.gov/pubmed/36246636
http://dx.doi.org/10.3389/fgene.2022.998846

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