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Article

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

American journal of human genetics - 1 Jan 2010

Riazuddin S Amer, Zaghloul Norann A, Al-Saif Amr, Davey Lisa, Diplas Bill H, Meadows Danielle N, Eghrari Allen O, Minear Mollie A, Li Yi-Ju, Klintworth Gordon K, Afshari Natalie, Gregory Simon G, Gottsch John D, Katsanis Nicholas

Abstract excerpt

Fuchs corneal dystrophy (FCD) is a degenerative genetic disorder of the corneal endothelium that represents one of the most common causes of corneal transplantation in the United States. Despite its high prevalence (4% over the age of 40), the underlying genetic basis of FCD is largely unknown. Here we report missense mutations in TCF8, a transcription factor whose haploinsufficiency causes posterior polymorphous...

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Share to Chromosomes, Human, Pair 9
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

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Source

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Identifiers

PMID: 20036349
DOI: 10.1016/j.ajhg.2009.12.001
PMCID: PMC2801746

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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