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Article

TGFBI gene mutations in corneal dystrophies.

Human mutation - 1 Jul 2006

Kannabiran Chitra, Klintworth Gordon K

Abstract excerpt

The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma. They are bilateral, progressive conditions characterized by the formation of opacities arising due to the deposition of insoluble material in the corneal stroma leading to visual impairment. The LCDs and GCDs are distinguished from each other and are divided into subtypes on the...

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TGFBI gene
Mutation, Missense
Phenotype
Connective tissue disorders research
Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Corneal surgery and disorders

Extracellular Matrix Proteins

Transforming Growth Factor beta

Source

Identifiers

PMID: 16683255
DOI: 10.1002/humu.20334

Genes

TGFBI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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