Clinical, Radiologic, and Genetic Features in Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome in the Indian Population-Reference-Cited by-同舟云学术

Clinical, Radiologic, and Genetic Features in Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome in the Indian Population

Published:2013-04-26 Issue:4 Volume:54 Page:2985
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Chawla Bhavna¹,Bhadange Yogesh¹,Dada Rima²,Kumar Manoj²,Sharma Sanjay³,Bajaj Mandeep S.¹,Pushker Neelam¹,Chandra Mahesh¹,Ghose Supriyo¹

Affiliation:

1. Oculoplastics, Orbit, and Ocular Oncology Service, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

2. Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India

3. Department of Radio-diagnosis, All India Institute of Medical Sciences, New Delhi, India

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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1. Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family;BMC Ophthalmology;2023-11-07

2. Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome;International Journal of Ophthalmology;2023-05-18

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

4. ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome;Open Life Sciences;2021-01-01

5. Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report;Journal of Clinical and Translational Endocrinology: Case Reports;2020-09