Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is an inherited vitreoretinopathy. This study aimed to analyze the ocular phenotypes and systemic features of patients with CTNNB1 mutations. METHODS: Whole exome sequencing was performed in the probands, and Sanger sequencing was used to verify t...

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Detalles Bibliográficos
Autores principales: Huang, Li, Lu, Jinglin, Wang, You, Sun, Limei, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940768/
https://www.ncbi.nlm.nih.gov/pubmed/36790797
http://dx.doi.org/10.1167/iovs.64.2.18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940768/
https://www.ncbi.nlm.nih.gov/pubmed/36790797
http://dx.doi.org/10.1167/iovs.64.2.18

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