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Article

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype.

Molecular vision - 20 Jan 2011

Zhu Yanan, Shentu Xingchao, Wang Wei

Abstract excerpt

PURPOSE: To report the clinical and molecular features of a distinct form of transforming growth factor-β-induced (TGFBI) gene-linked corneal dystrophy exhibiting a new granular corneal dystrophy type I (CDGG1) phenotype. METHODS: A complete ophthalmologic examination was performed in all individuals of a Chinese family in which autosomal dominant transmission of the disease had been observed. DNA was obtained...

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Source

Open in PubMed Open full text

Identifiers

PMID: 21264234
PMCID: PMC3025098

Genes

TGFBI
KRT12
KRT3

Variants

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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