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Article

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.

International ophthalmology - 1 Dec 2016

Foja Sabine, Hoffmann Katrin, Auw-Haedrich Claudia, Reinhard Thomas, Rupprecht Andreas, Gruenauer-Kloevekorn Claudia

Abstract excerpt

The purpose of this study was to report on two novel missense mutations of the cornea-specific TGFBI gene in one single patient and in two generations of a family diagnosed with unique corneal dystrophy (CD) phenotypes. Ophthalmologic examination, in several cases ocular coherence tomography of the anterior segment (AS-OCT), was performed in 21 affected patients and in two unaffected members of one affected...

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Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TGFBI gene

Share to Genetic Predisposition to Disease

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Share to Transforming Growth Factor beta1

Source

Identifiers

PMID: 26961680
DOI: 10.1007/s10792-016-0216-5

Genes

TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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