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Articles (14)

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1-10 of 14 results for Blepharophimosis syndrome

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Select article: A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome

Open access

Research article

First published 2020-1

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome

Yuan Wang, Qian Wu, Li Li [...]

Science Progress

Select article: De Novo Interstitial Deletion of 3q22.3-q25.2 Encompassing FOXL2,ATR,ZIC1,and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome,Dandy-Walker Malformation,and Global Developmental Delay

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Other

First published 2011-5

De Novo Interstitial Deletion of 3q22.3-q25.2 Encompassing FOXL2,ATR,ZIC1,and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome,Dandy-Walker Malformation,and Global Developmental Delay

Byung Chan Lim, Woong Yang Park, Eul-Ju Seo [...]

Journal of Child Neurology

Select article: Blepharophimosis,Ptosis,and Epicanthus Inversus Syndrome: Expanding the Phenotype

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Case report

First published 2016-11

Blepharophimosis,Ptosis,and Epicanthus Inversus Syndrome: Expanding the Phenotype

Sultan Kaba, Murat DoğAn, Keziban Bulan [...]

The Cleft Palate Craniofacial Journal

Select article: Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

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Letter

First published 2010-02

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

Ibtissem Chouchene, Kaouthar Derouiche, Afif Chaabouni [...]

Genetic Testing and Molecular Biomarkers

Select article: A rare association of blepharophimosis–ptosis–epicanthus inversus case with congenital nasolacrimal duct obstruction

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Case report

First published 2021-3

A rare association of blepharophimosis–ptosis–epicanthus inversus case with congenital nasolacrimal duct obstruction

Nishi Gupta, Suma Ganesh, Poonam Singla [...]

European Journal of Ophthalmology

Select article: Mutations of the Transcription Factor FOXL2 Gene in Chinese Patients with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

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Research article

First published 2009-04

Mutations of the Transcription Factor FOXL2 Gene in Chinese Patients with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Dongmei Li, Wotan Zeng, Jing Tao [...]

Genetic Testing and Molecular Biomarkers

Select article: Two Families with Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome Have Mutations in the Putative Forkhead Transcription Factor FOXL2

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Brief report

First published 2001-12

Two Families with Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome Have Mutations in the Putative Forkhead Transcription Factor FOXL2

Rachel Bell, Victoria A. Murday, Michael A. Patton [...]

Genetic Testing and Molecular Biomarkers

Select article: Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

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Research article

First published 2018-10

Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Huiyan Li, Yangshun Gu

Genetic Testing and Molecular Biomarkers

Select article: Cleft Palate and Keratoconus in a Child Affected by Fetal Alcohol Syndrome: An Accidental Association?

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Research article

First published 2007-1

Cleft Palate and Keratoconus in a Child Affected by Fetal Alcohol Syndrome: An Accidental Association?

Stefano Pensiero, Francesco Manna, Paola Michieletto [...]

The Cleft Palate Craniofacial Journal

Select article: Additional Case of Marden-Walker Syndrome: Support for the Autosomal-Recessive Inheritance and Refinement of Phenotype in a Surviving Patient

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Other

First published 2001-02

Additional Case of Marden-Walker Syndrome: Support for the Autosomal-Recessive Inheritance and Refinement of Phenotype in a Surviving Patient

Alfredo Orrico, Lucia Galli, Michele Zappella [...]

Journal of Child Neurology

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