Discover Community Create You

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

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.

Genetic testing and molecular biomarkers - 1 Mar 2022

Wang Yuze, Zhao Rulian, Dai Erkuan, Peng Li, He Yunqi, Yang Mu, Li Shujin

Abstract excerpt

Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited eye disease characterized by abnormal development of the retinal vasculature. Variants in the reported genes account for ∼50% of total FEVR cases. However, the pathogenesis of the other 50% of FEVR cases remains unclear. Therefore, it is crucial to identify novel variants responsible for the pathogenesis of FEVR. Aims: To...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Exudative Vitreoretinopathies

Share to Low Density Lipoprotein Receptor-Related Protein-5

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 35244470
DOI: 10.1089/gtmb.2021.0223

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.PMID 35244470Read ↗

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

Identification of LRP5 mutations in families with 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 novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.Semantic proximity Read ↗

Identification of two novel LRP5 mutations in families with 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 Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

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

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

Whole Exome Sequencing Revealed Three Novel Variants in TSPAN12 and LRP5 Genes for Two Families with Familial Exudative VitreoretinopathySemantic 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 ↗

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