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Mutation spectrum of Fork-Head Transcriptional Factor Gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients
  1. Inderjeet Kaur1,
  2. Avid Hussain1,
  3. Milind N Naik2,
  4. Ramesh Murthy2,
  5. Santosh G Honavar2
  1. 1Hyderabad Eye Research Foundation, Hyderabad, India
  2. 2Hyderabad Eye Institute, LV Prasad Eye Institute, Hyderabad, India
  1. Correspondence to Dr Inderjeet Kaur, Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre, Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad 500034, India; inderjeet{at}lvpei.org

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Introduction

Blepherophimosis Ptosis Epicanthus Inversus Syndrome (BPES) (OMIM 110100) is a rare genetic disorder associated with eyelid abnormality with a global prevalence of about 1 in 50 000 live births.1 Clinically, BPES is classified as type I, where eyelid malformation is associated with premature ovarian failure (POF) and type II, with only …

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