Article

Familial exudative vitreoretinopathy caused by CTNNB1 gene mutation in a Chinese family: A case report

2024-01-29

Abstract excerpt

<title>Abstract</title> <p>Background Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population. This study will provide a case of FEVR due to <italic>CTNNB1</italic> splice mutation in a Chinese family, which will be helpful for genetic counseling and clinical...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 92f679d1-a23e-5b77-8542-a718a841ed89
DOI: 10.21203/rs.3.rs-3893221/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Familial exudative vitreoretinopathy caused by CTNNB1 gene mutation in a Chinese family: A case reportDOI 10.21203/rs.3.rs-3893221/v1Read

A case report of familial exudative vitreoretinopathy in a Chinese FamilySemantic proximity Read

Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.Semantic proximity Read

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

Clinical and whole-exome sequencing findings in Individuals from Yunnan Province with Familial Exudative VitreoretinopathySemantic proximity Read

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.Semantic proximity Read

Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.Semantic proximity Read

Whole Exome Sequencing Revealed Three Novel Variants in TSPAN12 and LRP5 Genes for Two Families with Familial Exudative VitreoretinopathySemantic proximity Read

Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy.Semantic proximity Read

Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.Semantic proximity Read

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Semantic proximity Read

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.Semantic proximity Read

Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.Semantic proximity Read