Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-Reference-Cited by-同舟云学术

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Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

Published:2010-11-10 Issue:2 Volume:26 Page:283-289
ISSN:0267-8357
Container-title:Mutagenesis
language:en
Short-container-title:Mutagenesis

Author:

Fan J.-Y.,Han B.,Qiao J.,Liu B.-L.,Ji Y.-R.,Ge S.-F.,Song H.-D.,Fan X.-Q.

Publisher

Oxford University Press (OUP)

Subject

Health, Toxicology and Mutagenesis,Genetics(clinical),Toxicology,Genetics

Link

http://academic.oup.com/mutage/article-pdf/26/2/283/3812331/geq086.pdf

Reference29 articles.

1. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

2. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

3. Evolution and expression of FOXL2

4. Structure, evolution and expression of the FOXL2 transcription unit

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Forkhead Box L2 Missense Mutation, c.1068G>C, in a Chinese Family With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome;Journal of Craniofacial Surgery;2021-08-09

2. Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome;International Journal of Ophthalmology;2021-04-18

3. Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome;Frontiers in Genetics;2021-03-16

4. The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome;Genes;2021-03-04

5. Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome;Genetic Testing and Molecular Biomarkers;2018-10

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