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Article

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.

American journal of human genetics - 3 Oct 2013

Riazuddin S Amer, Vasanth Shivakumar, Katsanis Nicholas, Gottsch John D

Abstract excerpt

Fuchs corneal dystrophy (FCD) is a hereditary dystrophy of the corneal endothelium and is responsible for majority of the corneal transplantation performed in the United States. Here, we describe three generations of a family with 12 individuals affected by late-onset FCD and in which three individuals are unaffected. Genome-wide mapping provided suggestive linkage at two loci on chromosomal arms 3p and 15q....

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Source

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Identifiers

PMID: 24094747
DOI: 10.1016/j.ajhg.2013.08.010
PMCID: PMC3791265

Genes

AGBL1
TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.PMID 24094747Read ↗

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