Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy-Reference-Cited by-同舟云学术

Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy

Published:2020-02-29 Issue:1 Volume:9 Page:48-53
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Zamani Mina¹²,Shariati Gholamreza²³,Seifi Tahereh¹²,Sedaghat Alireza²⁴,Galehdari Hamid¹

Affiliation:

1. Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

2. Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.

3. Department of Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

4. Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/9/1/9_2019.01109/_pdf

Reference25 articles.

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2. 2. Fei P, Zhu X, Jiang Z, Ma S, Li J, Zhang Q, Zhou Y, Xu Y, Tai Z, Zhang L, Huang L, Yang Z, Zhao P, Zhu X. Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. Sci Rep. 2015; 5:16120.

3. 3. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969; 68:578-594.

4. 4. Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002; 32:326-330.

5. 5. Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A. 2013; 110:9856-9861.

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