CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype
- PMID: 26967979
- DOI: 10.3109/13816810.2015.1120318
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype
Similar articles
-
Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):18. doi: 10.1167/iovs.64.2.18. Invest Ophthalmol Vis Sci. 2023. PMID: 36790797 Free PMC article.
-
Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.JAMA Ophthalmol. 2024 Sep 1;142(9):874-878. doi: 10.1001/jamaophthalmol.2024.2847. JAMA Ophthalmol. 2024. PMID: 39145965
-
[Vitreous hemorrhage as the initial manifestation of familial exudative vitreoretinopathy in an eight-year-old child].J Fr Ophtalmol. 2016 Jun;39(6):549-53. doi: 10.1016/j.jfo.2015.08.016. Epub 2016 May 24. J Fr Ophtalmol. 2016. PMID: 27230891 French.
-
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.J Pediatr Ophthalmol Strabismus. 2016 Jul 30;53:e39-42. doi: 10.3928/01913913-20160719-02. J Pediatr Ophthalmol Strabismus. 2016. PMID: 27486893 Review.
-
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.Ophthalmic Genet. 2020 Feb;41(1):63-68. doi: 10.1080/13816810.2020.1723118. Epub 2020 Feb 10. Ophthalmic Genet. 2020. PMID: 32039639 Review.
Cited by
-
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
-
Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):18. doi: 10.1167/iovs.64.2.18. Invest Ophthalmol Vis Sci. 2023. PMID: 36790797 Free PMC article.
-
CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report.Front Pediatr. 2023 Jun 16;11:1201080. doi: 10.3389/fped.2023.1201080. eCollection 2023. Front Pediatr. 2023. PMID: 37416820 Free PMC article.
-
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):1. doi: 10.1167/iovs.65.4.1. Invest Ophthalmol Vis Sci. 2024. PMID: 38558095 Free PMC article.
-
Multimodal imaging of white preretinal lesions in atypical familial exudative vitreoretinopathy: Case report and literature review.Am J Ophthalmol Case Rep. 2024 Apr 10;34:102051. doi: 10.1016/j.ajoc.2024.102051. eCollection 2024 Jun. Am J Ophthalmol Case Rep. 2024. PMID: 38628947 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous