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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...

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Source

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Identifiers

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

Genes

TGFBI
TBCD

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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