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Article

Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.

Investigative ophthalmology & visual science - 1 Feb 2023

Huang Li, Lu Jinglin, Wang You, Sun Limei, Ding Xiaoyan

Abstract excerpt

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 the mutations and perform segregation analysis in the available family members. A luciferase assay was used to assess...

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Identifiers

PMID: 36790797
DOI: 10.1167/iovs.64.2.18
PMCID: PMC9940768

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