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

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.

Molecular vision - 1 Jan 2009

Cao Wenping, Ge Hongyan, Cui Xiaobo, Zhang Lu, Bai Jing, Fu Songbin, Liu Ping

Abstract excerpt

PURPOSE: To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family. METHODS: A complete ophthalmologic examination was performed in 21 individuals (6 affected and 15 unaffected) of the four-generation family. DNA was obtained from peripheral blood leukocytes of each participant. Genetic analysis included TGFBI...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
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 Family

Share to Homozygote

Share to Penetrance

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 19145249
PMCID: PMC2622714

Genes

TGFBI
ACD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.PMID 19145249Read ↗

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.Semantic proximity Read ↗

[Analyses of TGFBI gene mutation spectrum in four Chinese families 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 ↗

Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.Semantic proximity Read ↗

[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy].Semantic proximity Read ↗

Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.Semantic proximity Read ↗

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

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

TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.Semantic proximity Read ↗

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

Molecular genetic analysis of R124H TGFBIp in one family Avellino corneal dystrophy.Semantic proximity Read ↗

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

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