Mutation spectrum in a cohort with familial exudative vitreoretinopathy-Reference-Cited by-同舟云学术

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Mutation spectrum in a cohort with familial exudative vitreoretinopathy

Published:2022-07-25 Issue:9 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Qu Ning¹,Li Wei²^ORCID,Han Dong‐Ming²,Gao Jia‐Yu²,Yang Zheng‐Tao²,Jiang Li³,Liu Tian‐Bin²,Chen Yan‐Xian¹,Jiang Xiao‐Sen²,Zhou Liang¹,Wu Ji‐Hong⁴,Huang Xin⁴

Affiliation:

1. Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine Peking University Shenzhen Hospital Shenzhen China

2. College of Life Sciences University of Chinese Academy of Sciences Beijing China

3. Department of Ophthalmology Laizhou City People's Hospital Yantai China

4. Department of Ophthalmology Eye & ENT Hospital of Fudan University Shanghai China

Funder

National Natural Science Foundation of China

Program of Shanghai Academic Research Leader

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2021

Reference40 articles.

1. A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy

2. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

3. Familial Exudative Vitreoretinopathy

4. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

5. CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

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1. Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes;Ophthalmology Science;2024-09

2. Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing;Ophthalmic Genetics;2024-06-05

3. Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy;American Journal of Ophthalmology;2024-06

4. Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations;Investigative Opthalmology & Visual Science;2024-04-01

5. The genetics and disease mechanisms of rhegmatogenous retinal detachment;Progress in Retinal and Eye Research;2023-11

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