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Article

[Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Jun 2010

Zhou Zhong-min, Liang De-sheng, Quan Yi, Xue Jin-jie, Li Hong-yan, Xia Xiao-bo, Wu Ling-qian

Abstract excerpt

OBJECTIVE: To perform genetic analysis in 5 patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and refine the genotype-phenotype correlation. METHODS: G-band karyotyping, fluorescent in situ hybridization (FISH), SNP array, PCR and sequencing techniques were performed to on...

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Source

Identifiers

PMID: 21055199

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21055199-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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