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

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy].

Klinische Monatsblatter fur Augenheilkunde - 1 Oct 2006

Grünauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Völcker H E, Heinritz W, Froster U, Duncker G

Abstract excerpt

PURPOSE: Different missense mutations in the TGFBI gene cause granular (Groenouw CDGG1, Avellino CDA, Reis-Bücklers CDB1) and lattice (Type I; Biber-Haab-Dimmer; CDL1) corneal dystrophies and, in some reports, corneal dystrophy Thiel-Behnke (CDB2). We report on the mutation spectrum and the genotype-phenotype correlations on the basis of clinical and histopathological examinations of 13 German families with...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Genetic Carrier Screening

Share to Genetic Markers

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Transforming Growth Factor beta

Source

Identifiers

PMID: 17063427
DOI: 10.1055/s-2006-926694

Genes

TGFBI
CDA

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy].PMID 17063427Read ↗

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

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

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.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 causing lattice and granular corneal dystrophies in Indian patients.Semantic proximity Read ↗

[TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies].Semantic proximity Read ↗

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.Semantic proximity Read ↗

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

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

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

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.Semantic proximity Read ↗

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