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

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.

Human mutation - 1 Jan 1999

Stewart H S, Ridgway A E, Dixon M J, Bonshek R, Parveen R, Black G

Abstract excerpt

Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers. Initially an exact genotype-phenotype correlation was reported. We report three families, with differing clinical features, all presenting with "granular" corneal dystrophy. We...

Read the complete abstract on PubMed

Topics

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

Share to Amyloid
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cornea

Share to Corneal Dystrophies, Hereditary

Share to DNA Mutational Analysis

Share to Histocytochemistry

Share to Polymorphism, Single-Stranded Conformational

Share to Transforming Growth Factor beta

Source

Identifiers

PMID: 10425035
DOI: 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W

Genes

TGFBI
ACD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.PMID 10425035Read ↗

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

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.Semantic proximity Read ↗

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.Semantic proximity Read ↗

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.Semantic proximity Read ↗

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophySemantic proximity Read ↗

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.Semantic proximity Read ↗

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.Semantic proximity Read ↗

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.Semantic proximity Read ↗

TGFBI gene mutations in corneal dystrophies.Semantic proximity Read ↗

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane 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 ↗

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.Semantic proximity Read ↗

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