FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations
Author:
Affiliation:
1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Subject
General Medicine
Reference37 articles.
1. Familial exudative vitreoretinopathy;Criswick;Am J Ophthalmol,1969
2. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy;Robitaille;Nat Genet,2002
3. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy;Nikopoulos;Am J Hum Genet,2010
4. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5;Jiao;Am J Hum Genet,2004
5. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy;Chen;Nat Genet,1993
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1. Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations;Investigative Opthalmology & Visual Science;2024-04-01
2. Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy;Translational Vision Science & Technology;2023-05-30
3. Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations;Investigative Opthalmology & Visual Science;2023-02-15
4. Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity;Frontiers in Medicine;2022-10-24
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