Citations (23)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (1)
Razek Georges Coussa, Yue Zhao, Meghan J. DeBenedictis, Allison Babiuch, Jonathan Sears & Elias I. Traboulsi. (2020) Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. Ophthalmic Genetics 41:1, pages 63-68.
Read now
Read now
Articles from other publishers (22)
Vincent Le, Gabrielle Abdelmessih, Wendy A. Dailey, Cecille Pinnock, Victoria Jobczyk, Revati Rashingkar, Kimberly A. Drenser & Kenneth P. Mitton. (2023) Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome. Cells 12:21, pages 2579.
Crossref
Crossref
G. S. Golosnaya, N. A. Ermolenko, O. N. Krasnorutskaya, V. L. Efimova, T. A. Larionova & M. D. Tysyachina. (2023) CTNNB1 syndrome (<i>CTNNB1</i>-NDD) in a child with cerebral palsy: a case report. Russian Journal of Child Neurology 18:1, pages 46-51.
Crossref
Crossref
Jaewoong Lee, Jaeeun Yoo, Seungok Lee & Dae-Hyun Jang. (2023) CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report. Frontiers in Pediatrics 11.
Crossref
Crossref
Rulian Zhao, Erkuan Dai, Shiyuan Wang, Xiang Zhang, Yunqi He, Li Peng, Peiquan Zhao, Zhenglin Yang, Mu Yang & Shujin Li. (2022)
A comprehensive functional analysis on the pathogenesis of novel
TSPAN12
and
NDP
variants in familial exudative vitreoretinopathy
. Clinical Genetics 103:3, pages 320-329.
Crossref
Crossref
Li Huang, Jinglin Lu, You Wang, Limei Sun & Xiaoyan Ding. (2023)
Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With
CTNNB1
Mutations
. Investigative Opthalmology & Visual Science 64:2, pages 18.
Crossref
Crossref
Yunqi He, Mu Yang, Rulian Zhao, Li Peng, Erkuan Dai, Lulin Huang, Peiquan Zhao, Shujin Li & Zhenglin Yang. (2023)
Novel truncating variants in
CTNNB1
cause familial exudative vitreoretinopathy
. Journal of Medical Genetics 60:2, pages 174-182.
Crossref
Crossref
Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou & Graeme C. Black. (2022) Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia. Orphanet Journal of Rare Diseases 17:1.
Crossref
Crossref
Dan Yan, Yu Sun, Na Xu, Yongguo Yu & Yongkun Zhan. (2022)
Genetic and clinical characteristics of 24 mainland Chinese patients with
CTNNB1
loss‐of‐function variants
. Molecular Genetics & Genomic Medicine 10:11.
Crossref
Crossref
Miaomiao Liu, Jia Luo, Huazhang Feng, Jing Li, Xiang Zhang, Peiquan Zhao & Ping Fei. (2022) Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity. Frontiers in Medicine 9.
Crossref
Crossref
Špela Miroševič, Shivang Khandelwal, Petra Sušjan, Nina Žakelj, David Gosar, Vida Forstnerič, Duško Lainšček, Roman Jerala & Damjan Osredkar. (2022) Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature. International Journal of Molecular Sciences 23:20, pages 12564.
Crossref
Crossref
Ning Qu, Wei Li, Dong‐Ming Han, Jia‐Yu Gao, Zheng‐Tao Yang, Li Jiang, Tian‐Bin Liu, Yan‐Xian Chen, Xiao‐Sen Jiang, Liang Zhou, Ji‐Hong Wu & Xin Huang. (2022) Mutation spectrum in a cohort with familial exudative vitreoretinopathy. Molecular Genetics & Genomic Medicine.
Crossref
Crossref
Mu Yang, Shujin Li, Li Huang, Rulian Zhao, Erkuan Dai, Xiaoyan Jiang, Yunqi He, Jinglin Lu, Li Peng, Wenjing Liu, Zhaotian Zhang, Dan Jiang, Yi Zhang, Zhilin Jiang, Yeming Yang, Peiquan Zhao, Xianjun Zhu, Xiaoyan Ding & Zhenglin Yang. (2022) CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis. JCI Insight 7:14.
Crossref
Crossref
Phoebe Mellen & Caroline Baumal. (2022) Retinal Detachment Present at Birth in an Infant With a Novel CTNNB1 Mutation. Ophthalmic Surgery, Lasers and Imaging Retina 53:7, pages 403-405.
Crossref
Crossref
Boontip Tipsuriyaporn, Michael J. Ammar & Yoshihiro Yonekawa. (2020) CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT. RETINAL Cases & Brief Reports 16:3, pages 259-262.
Crossref
Crossref
Junxing Yang, Xueshan Xiao, Shiqiang Li, Guiying Mai, Xiaoyun Jia, Panfeng Wang, Wenmin Sun & Qingjiong Zhang. (2022) Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11. American Journal of Ophthalmology 235, pages 178-187.
Crossref
Crossref
Xianjun Zhu, Mu Yang, Peiquan Zhao, Shujin Li, Lin Zhang, Lulin Huang, Yi Huang, Ping Fei, Yeming Yang, Shanshan Zhang, Huijuan Xu, Ye Yuan, Xiang Zhang, Xiong Zhu, Shi Ma, Fang Hao, Periasamy Sundaresan, Weiquan Zhu & Zhenglin Yang. (2021) Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling. Journal of Clinical Investigation 131:6.
Crossref
Crossref
Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C. Mefford, Katie Golden‐Grant, Kristina Tarczy‐Hornoch, Lauren C. Briere, David A. Sweetser, Melissa A. Walker, Elijah Kravets, David A. Stevenson, Georgette Bruenner, Jessica Sebastian, Julia Knapo, Jill A. Rosenfeld, Paul C. Marcogliese & Michael F. Wangler. (2020)
Missense variants in
CTNNB1
can be associated with vitreoretinopathy—Seven new cases of
CTNNB1
‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
. Molecular Genetics & Genomic Medicine 9:1.
Crossref
Crossref
Shuai Han, Junhui Sun, Liwei Yang & Ming Qi. (2020)
Role of
NDP
- and
FZD4
-Related Novel Mutations Identified in Patients with FEVR in Norrin/
β
-Catenin Signaling Pathway
. BioMed Research International 2020, pages 1-11.
Crossref
Crossref
Dyah W. Karjosukarso, Zaheer Ali, Theo A. Peters, Jia Qi Cheng Zhang, Anita D M. Hoogendoorn, Alejandro Garanto, Erwin van Wijk, Lasse D. Jensen & Rob W J. Collin. (2020)
Modeling
ZNF408
-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature
. Investigative Opthalmology & Visual Science 61:2, pages 39.
Crossref
Crossref
Hongtao Xiao, Yuna Tong, Yuxuan Zhu & Min Peng. (2019)
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/
β
-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
. Journal of Ophthalmology 2019, pages 1-24.
Crossref
Crossref
Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang & Qingjiong Zhang. (2019)
Germline Mutations in
CTNNB1
Associated With Syndromic FEVR or Norrie Disease
. Investigative Opthalmology & Visual Science 60:1, pages 93.
Crossref
Crossref
Evangelia S. Panagiotou, Carla Sanjurjo Soriano, James A. Poulter, Emma C. Lord, Denisa Dzulova, Hiroyuki Kondo, Atsushi Hiyoshi, Brian Hon-Yin Chung, Yoyo Wing-Yiu Chu, Connie H.Y. Lai, Mark E. Tafoya, Dyah Karjosukarso, Rob W.J. Collin, Joanne Topping, Louise M. Downey, Manir Ali, Chris F. Inglehearn & Carmel Toomes. (2017) Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. The American Journal of Human Genetics 100:6, pages 960-968.
Crossref
Crossref