Article

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

2023-03-29

Abstract excerpt

Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of a non-coding CTG repeat element (termed CTG18.1) located within the ubiquitously expressed transcription factor encoding gene, TCF4 . The non-coding nature of the repeat and th...

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Literature Corpus work: f5db00a0-827d-517d-87d1-649c2baee236
DOI: 10.1101/2023.03.29.534731

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