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

Genes in dizygote twins with Bowman layer corneal dystrophy.

Optometry and vision science : official publication of the American Academy of Optometry - 1 Apr 2015

Hou Yu-Chih, Hu Fung-Rong, Wang I-Jong

Abstract excerpt

PURPOSE: To report a de novo R124C mutation of transforming growth factor β-induced (TGFBI) gene in one of dizygotic twins with corneal dystrophy of the Bowman layer. CASE REPORT: An 11-year-old boy was one of dizygotic twins and had a history of bilateral blurred vision and recurrent corneal erosion. Examination of the visual acuity demonstrated 20/40 in his each eye. Biomicroscopy showed bilaterally central...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Dystrophies, Hereditary
Share to Diseases in Twins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Microscopy, Confocal

Share to Tomography, Optical Coherence

Share to Transforming Growth Factor beta

Share to Twins, Dizygotic

Share to Visual Acuity

Source

Identifiers

PMID: 25785536
DOI: 10.1097/OPX.0000000000000555

Genes

TGFBI

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

Genes in dizygote twins with Bowman layer corneal dystrophy.PMID 25785536Read ↗

TGFBI gene mutations in a Korean population with corneal dystrophy.Semantic proximity Read ↗

A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.Semantic proximity Read ↗

Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.Semantic proximity Read ↗

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.Semantic proximity Read ↗

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.Semantic proximity Read ↗

TGFBI gene mutations analysis in Chinese families with corneal dystrophies.Semantic proximity Read ↗

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.Semantic proximity Read ↗

[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].Semantic proximity Read ↗

R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.Semantic proximity Read ↗

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.Semantic proximity Read ↗

A Novel Variant of Granular Corneal Dystrophy Caused by Association of 2 Mutations in the TGFBI Gene—R124L and ΔT125-ΔE126Semantic proximity Read ↗

Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy.Semantic proximity Read ↗

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