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Article

Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.

Investigative ophthalmology & visual science - 1 Aug 2025

Maeno Sayo, Yamashita Arisa, Oie Yoshinori, Koto Ryota, Kai Chifune, Nishida Nozomi, Nakamori Masayuki, Tsujikawa Motokazu, Nishida Kohji

Abstract excerpt

Purpose: The purpose of this study was to investigate trinucleotide repeat (TNR) expansion and somatic repeat instability in the TCF4 gene using small pool polymerase chain reaction (SP-PCR) in patients with Fuchs' endothelial corneal dystrophy (FECD). Methods: We selected 15 patients with FECD who had an abnormal CTG extension allele of 50 or more in the TCF4 gene via a short tandem repeat (STR) assay and...

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Source

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Identifiers

PMID: 40767442
DOI: 10.1167/iovs.66.11.14
PMCID: PMC12347246

Genes

TCF4
TNR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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