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Article

Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.

Molecular vision - 1 Jan 2013

Zhang Li, Wang Liming, Han Ruifang, Guan Lifang, Fan Baohong, Liu Mingmei, Ying Ming, Peng Hao, Li Ningdong

Abstract excerpt

PURPOSE: To determine the genetic origin of disease in four Chinese families with blepharophimosis syndrome. METHODS: Four Han Chinese families with blepharophimosis syndrome were ascertained and patients underwent complete physical and ophthalmic examinations. Blood samples were collected and genomic DNA was extracted. Sequence analysis of the forkhead transcriptional factor 2 (FOXL2) gene was performed by...

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Source

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Identifiers

PMID: 24265544
PMCID: PMC3834601

Genes

FOXL2

Variants

Provenance

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

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