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Article

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

Ophthalmology - 1 Apr 2001

Dighiero P, Niel F, Ellies P, D'Hermies F, Savoldelli M, Renard G, Delpech M, Valleix S

Abstract excerpt

PURPOSE: To establish a phenotype-genotype correlation of various autosomal-dominant corneal dystrophies among French subjects. DESIGN: Retrospective molecular genetic study and clinicopathologic correlation. PARTICIPANTS: Forty-four subjects from 26 unrelated French families were included in thi...

Topics

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Cornea
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Extracellular Matrix Proteins
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neoplasm Proteins

Polymerase Chain Reaction

Transforming Growth Factor beta

Source

Identifiers

PMID: 11297504
DOI: 10.1016/s0161-6420(00)00662-x

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11297504-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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