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

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Molecular vision - 13 Aug 2010

Romero Pablo, Moraga Mauricio, Herrera Luisa

Abstract excerpt

PURPOSE: To describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean families with lattice corneal dystrophy type I (LCDI). METHODS: Snellen acuity tests, anterior segment slit lamp examinations, dilated fundus evaluations, and tonometry were performed for seven patients--five females and two males belonging to three...

Read the complete abstract on PubMed

Topics

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

Share to Cornea
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Extracellular Matrix Proteins

Share to Family

Share to Polymorphism, Restriction Fragment Length

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 20806046
PMCID: PMC2927433

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).PMID 20806046Read ↗

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.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 ↗

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.Semantic proximity Read ↗

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

An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.Semantic proximity Read ↗

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.Semantic proximity Read ↗

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

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.Semantic proximity Read ↗

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

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.Semantic proximity Read ↗

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

A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.Semantic proximity Read ↗

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