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Article

Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome.

Molecular vision - 1 Jan 2013

Jiang Haiou, Huang Xueshuang, Su Zhiguang, Rao Libing, Wu Sisi, Zhang Ting, Li Kang, Quan Qingli, Zhang Kang

Abstract excerpt

PURPOSE: Clinically, blepharophimosis syndrome (BPES) has been divided into two subsets according to the association of ocular malformation with (type I) or without (type II) premature ovarian failure (POF). BPES is ascribed to mutations in the forkhead transcriptional factor 2 (FOXL2) gene. This study aimed at identifying clinical features and mutations within the FOXL2 gene in three Chinese families with BPES....

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Source

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Identifiers

PMID: 23441113
PMCID: PMC3580973

Genes

FOXL2

Variants

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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