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Article

A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.

Molecular vision - 1 Jan 2013

Kim Gyu-Nam, Ki Chang-Seok, Seo Seong-Wook, Yoo Ji-Myong, Han Yong-Seop, Chung In-Young, Park Jong-Moon, Kim Seong-Jae

Abstract excerpt

PURPOSE: To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS). METHODS: Four members of the same family underwent complete ophthalmologic and systemic examinations and genetic analysis. Genomic DNA was isolated from peripheral blood leukocytes, and all coding exons with flanking intronic regions of the FOXC1 and pituitary homeobox...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23687430
PMCID: PMC3654851

Genes

FOXC1

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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