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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 this study, and 60 corneal buttons could be examined at the histologic and ultrastructural levels. METHODS: Light...

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Source

Identifiers

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

Genes

TGFBI

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.

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