Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India-Reference-Cited by-同舟云学术

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India

Published:2020-02-01 Issue:2 Volume:24 Page:92-98
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Zhu Xiong¹,Sun Kuanxiang¹,Huang Lulin¹,Ma Shi¹,Hao Fang¹,Yang Zhenglin¹²,Sundaresan Periasamy³,Zhu Xianjun¹²

Affiliation:

1. Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

2. Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.

3. Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0212

Reference33 articles.

1. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

2. Isolation of a candidate gene for Norrie disease by positional cloning

3. Erratum: Isolation of a candidate gene for Norrie disease by positional cloning

4. Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy

5. Familial Exudative Vitreoretinopathy

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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. Early onset high myopia and severe anisometropia associated with familial exudative vitreoretinopathy of irregular dominant inheritance in 12 Chinese families：analysis of refraction features and pathogenic variations;2024-01-31

3. Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals;PLOS ONE;2022-07-13

4. Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy;BMC Medical Genomics;2022-03-11

5. Heterozygote loss‐of‐function variants in theLRP5gene cause familial exudative vitreoretinopathy;Clinical & Experimental Ophthalmology;2022-02-07