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FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

Clinical chemistry and laboratory medicine - 1 Apr 2010

Lin Wei-De, Chou I-Ching, Lee Ni-Chung, Wang Chung-Hsing, Hwu Wuh-Liang, Lin Shuan-Pei, Chao Mei-Chyn, Tsai Yushin, Tsai Fuu-Jen

Abstract excerpt

BACKGROUND: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 (FOXL2) gene, a member of winged/forkhead transcription factor family, are responsible for both types of BPES. The purpose of...

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Blepharophimosis
Blepharoptosis
Eyelids
Forkhead Box Protein L2
Forkhead Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20184535
DOI: 10.1515/CCLM.2010.100

Genes

FOXL2

Variants

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FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.PMID 20184535Read ↗

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

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

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.Semantic proximity Read ↗

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

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

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.Semantic proximity Read ↗

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.Semantic proximity Read ↗

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Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.Semantic proximity Read ↗

The mutations and potential targets of the forkhead transcription factor FOXL2.Semantic proximity Read ↗

A Novel FOXL2 Missense Mutation, c.1068G>C, In Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type IISemantic proximity Read ↗

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.Semantic proximity Read ↗

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