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Article

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

Cornea - 1 Jun 2010

Edelstein Sean L, Huang Andrew J W, Harocopos George J, Waltman Stephen R

Abstract excerpt

PURPOSE: To present a patient with a genotype usually associated with lattice corneal dystrophy but with clinical and histopathologic features of advanced Avellino corneal dystrophy. METHODS: Penetrating keratoplasty was performed with subsequent histopathologic analysis. For genetic testing, a 5...

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Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20458218
DOI: 10.1097/ICO.0b013e3181c377a5

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20458218-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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