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

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.

Experimental eye research - 1 Sept 2023

Wang You, Lai Yanting, Jiang Zhaoxin, Li Songshan, Ding Xiaoyan

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inheritable vitreoretinal disease characterized by incomplete retinal vascular development, which often leads to multiple retinal complications and causes severe vision loss in children. We reported the TSPAN12 variants' frequency in a cohort of FEVR and five novel TSPAN12 variants and related clinical features in six Chinese families. Seven hundred thirty-four...

Read the complete abstract on PubMed

Topics

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

Share to beta Catenin
Share to Child
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Exudative Vitreoretinopathies

Share to Pedigree

Share to Retina

Share to Retinal Diseases

Share to Tetraspanins

Source

Identifiers

PMID: 37451565
DOI: 10.1016/j.exer.2023.109574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.PMID 37451565Read ↗

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.Semantic proximity Read ↗

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

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.Semantic proximity Read ↗

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.Semantic proximity Read ↗

A novel stop codon mutation of TSPAN12 gene in Chinese patients with 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 ↗

Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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