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Article

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

Ophthalmic genetics - 1 Dec 2016

Dixon Maxwell W, Stem Maxwell S, Schuette Jane L, Keegan Catherine E, Besirli Cagri G

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Source

Identifiers

PMID: 26967979
DOI: 10.3109/13816810.2015.1120318

Genes

CTNNB1

Provenance

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Related research

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Research trail→

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CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.PMID 26967979Read ↗

Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.Semantic 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 caused by CTNNB1 gene mutation in a Chinese family: A case reportSemantic proximity Read ↗

A case report of familial exudative vitreoretinopathy in a Chinese FamilySemantic 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 ↗

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.Semantic proximity Read ↗

Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.Semantic proximity Read ↗

Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.Semantic proximity Read ↗

Highly asymmetric early presentation of FEVR requiring enucleation.Semantic proximity Read ↗

Genetic analysis of a large heterogeneous patient population with Familial Exudative VitreoretinopathySemantic proximity Read ↗

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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