Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00527.x/fullpdf
Reference11 articles.
1. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome;Crisponi;Nat Genet,2001
2. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation;De Baere;Hum Mol Genet,2001
3. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation;De Baere;Am J Hum Genet,2003
4. Structure, evolution and expression of the FOXL2 transcription unit;Cocquet;Cytogenet Genome Res,2003
5. The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES);Dawson;Strabismus,2003
Cited by 13 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. 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
2. Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations;European Journal of Medical Genetics;2019-07
3. Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome;Ophthalmology;2017-03
4. Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome;Human Molecular Genetics;2014-11-21
5. Limited Ocular Motility in a Child With 3q23 Microdeletion (“Blepharophimosis Syndrome Plus”);Journal of Pediatric Ophthalmology & Strabismus;2014-11
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