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

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.

Molecular vision - 1 Jan 2012

Han Kyung Eun, Choi Seung-il, Chung Woo Suk, Jung Se Hwan, Katsanis Nicholas, Kim Tae-im, Kim Eung Kweon

Abstract excerpt

PURPOSE: To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS: We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype. Detailed...

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 Cornea
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Fibroblasts

Share to Gene Expression

Share to Severity of Illness Index

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 22815629
PMCID: PMC3398492

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

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.PMID 22815629Read ↗

Compound Heterozygous Mutations in TGFBI Cause a Severe Phenotype of Granular Corneal Dystrophy Type 2Semantic proximity Read ↗

Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.Semantic proximity Read ↗

Phenotypic non-penetrance in granular corneal dystrophy type II.Semantic proximity Read ↗

Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.Semantic proximity Read ↗

Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.Semantic proximity Read ↗

A unique TGFBI protein in granular corneal dystrophy types 1 and 2.Semantic proximity Read ↗

Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.Semantic proximity Read ↗

Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population.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 ↗

A Novel Mouse Model of Granular Corneal Dystrophy Type II Reveals Impaired Autophagy and Recapitulates Human Pathogenesis.Semantic proximity Read ↗

Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance PatternsSemantic proximity Read ↗

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.Semantic proximity Read ↗

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