Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy.

Genetic testing and molecular biomarkers - 1 May 2021

Zhang Shanshan, Li Xiao, Liu Wenjing, Zhang Xiang, Huang Lulin, Li Shujin, Yang Mu, Zhao Peiquan, Yang Jiyun, Fei Ping, Zhu Xianjun, Yang Zhenglin

Abstract excerpt

Purpose: Familial exudative vitreoretinopathy (FEVR) is a blinding retinal vascular disease. Clinically, FEVR is characterized by incomplete vascularization of the peripheral retina and pathological neovascularization. Only about 50% of FEVR cases can be explained by known FEVR disease gene variations. This study aimed to identify novel genes associated with the FEVR phenotype and explore their pathogenic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endothelial Cells

Share to Exome Sequencing

Share to Eye Diseases, Hereditary

Share to Familial Exudative Vitreoretinopathies

Share to Mutation, Missense

Share to Retinal Diseases

Source

Identifiers

PMID: 33945310
DOI: 10.1089/gtmb.2021.0013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy.PMID 33945310Read ↗

Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.Semantic proximity Read ↗

Clinical and whole-exome sequencing findings in Individuals from Yunnan Province with Familial Exudative VitreoretinopathySemantic proximity Read ↗

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

A case report of familial exudative vitreoretinopathy in a Chinese FamilySemantic proximity Read ↗

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.Semantic proximity Read ↗

Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.Semantic proximity Read ↗

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.Semantic proximity Read ↗

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.