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[Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Nov 2011

Ye Juan, Shi Xin, He Jin-jing, Zhang Hui-na

Abstract excerpt

OBJECTIVE: To analyse mutational points of FOXL2 gene in 5 Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and to predict structural changes of the mutational FOXL2 protein. So as to improve the diagnostic accuracy of this kind of disease. METHODS: Five millilite...

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Source

Identifiers

PMID: 22336067

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22336067-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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