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Article

TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.

Acta ophthalmologica - 1 Aug 2022

Viberg Andreas, Westin Ida Maria, Golovleva Irina, Byström Berit

Abstract excerpt

PURPOSE: Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 (TCF4) gene. This study investigates the prevalence of the cytosine-thymine-guanine (CTG)n repeat expansion in TCF4 among FECD patients in northern Sweden coupled to the phenotype. METHODS: Blood samples were collected from 85 FECD cases at...

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PMID: 34644448
DOI: 10.1111/aos.15032

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