Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].

Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery - 1 Jan 2007

Tang Sheng-jian, Wang Xiao-ke, Wang Yan-li, Lin Li-xin, Sun Yan

Abstract excerpt

OBJECTIVE: We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene, FOXL2, the group also have 12 normal members in this family and other 80 normal individuals for contrast. METHODS: The FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing. RESULTS: A 892C > T at nucleotides in FOXL2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blepharophimosis

Share to Child, Preschool

Share to Forkhead Box Protein L2

Share to Forkhead Transcription Factors

Share to Pedigree

Share to Syndrome

Source

Identifiers

PMID: 17393695

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].PMID 17393695Read ↗

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

[Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome].Semantic proximity Read ↗

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

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

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

[Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome].Semantic proximity Read ↗

A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.Semantic proximity Read ↗

A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.Semantic proximity Read ↗

FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

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

[Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome].Semantic proximity Read ↗

Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.