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[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 cases of two families. FOXL2 gene fragments were amplified by PCR and mutation was determined by sequencing DNA...

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Source

Identifiers

PMID: 16762234

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].PMID 16762234Read ↗

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Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

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