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Article

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

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 May 2006

Qi Yan-hua, Li Ying, Lin Hui, Jia Hong-yan, Su Hong, Gu Jing-zhi, Huang Shang-zhi, Liu Ya-ping

Abstract excerpt

OBJECTIVE: To identify the genetic mutation in two Chinese families and 6 sporadic patients with belpharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Polymorphisms of 5 satellite markers on 3q were analyzed and linkage analysis was performed using linkage software (MLINK) in all...

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Source

Identifiers

PMID: 16762234

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16762234-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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