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Article

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.

BMC ophthalmology - 13 Oct 2015

Yu Yinhui, Qiu Peijin, Zhu Yanan, Li Jinyu, Wu Menghan, Zhang Buyi, Yao Ke

Abstract excerpt

BACKGROUND: To investigate the molecular defects in a four-generation Chinese pedigree affected with Thiel-Behnke corneal dystrophy (TBCD). And to further study the relationship between genetic mutation and clinical manifestations. METHODS: Individuals of the pedigree were recruited for extensive ophthalmic examinations. Histological studies of two corneal buttons obtained from lamellar keratoplasty were...

Topics

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Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Exons
Extracellular Matrix Proteins
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Transforming Growth Factor beta

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Open in PubMed Open full text

Identifiers

PMID: 26464103
DOI: 10.1186/s12886-015-0121-0
PMCID: PMC4605025

Genes

TGFBI
TBCD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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