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Article

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Molecular vision - 18 Aug 2008

Wheeldon Catherine E, de Karolyi Betina H, Patel Dipika V, Sherwin Trevor, McGhee Charles N J, Vincent Andrea L

Abstract excerpt

PURPOSE: Corneal dystrophy of Bowman's layer (CDB) belongs to a group of dystrophies associated with mutations in the transforming growth factor-beta-induced (TGFBI) gene. CDB is further divided into a geographic variant (CDB1/Reis Bücklers, RBCD), and a honeycomb variant (CDB2/Thiel Behnke, TBCD). We undertook mutational analysis of TGFBI in a family with an unusual CDB variant and describe a novel...

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Topics

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Share to Cornea
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Transplantation

Share to Extracellular Matrix Proteins

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Share to Microscopy, Confocal

Share to Transforming Growth Factor beta

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Source

Open in PubMed Open full text

Identifiers

PMID: 18728790
PMCID: PMC2518171

Genes

TGFBI
TBCD

Variants

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.

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