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

Phenotypic non-penetrance in granular corneal dystrophy type II.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Nov 2008

Kim Jung-Wan, Kim Hyo-Myung, Song Jong-Suk

Abstract excerpt

PURPOSE: To report a possible case of phenotypic non-penetrance in granular corneal dystrophy type II (GCD-II). METHODS: DNA analysis was performed on 11 patients with white granular corneal opacities and 50 normal controls after informed consent was obtained. The TGFBI gene was analyzed by seque...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Corneal Dystrophies, Hereditary
Share to Corneal Opacity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermis

Share to Extracellular Matrix Proteins

Share to Histidine

Share to Keratinocytes

Share to Penetrance

Source

Identifiers

PMID: 18458933
DOI: 10.1007/s00417-008-0844-1

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18458933-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic non-penetrance in granular corneal dystrophy type II.PMID 18458933Read ↗

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.Semantic proximity Read ↗

A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.Semantic proximity Read ↗

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

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

Granular corneal dystrophy: an enigma resolved.Semantic proximity Read ↗

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

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

TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.Semantic proximity Read ↗

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

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.Semantic proximity Read ↗

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