Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)
Author:
Affiliation:
1. Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, USA
2. West Coast Retina Group, San Francisco, California, USA
3. Vanderbilt Eye Institute, Nashville, Tennessee, USA
Funder
San Francisco Retina Foundation
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1855664
Reference11 articles.
1. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP
2. Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment
3. Familial exudative vitreoretinopathy and related retinopathies
4. Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo;European Journal of Ophthalmology;2024-05-08
2. Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations;Investigative Opthalmology & Visual Science;2024-04-01
3. Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP);Ophthalmic Genetics;2022-11-29
4. Play the plug: How bacteria modify recognition by host receptors?;Frontiers in Microbiology;2022-10-14
5. Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals;PLOS ONE;2022-07-13
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