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Results 1 - 2 of 2 for Blepharophimosis
  1. FOXL2 gene 
    ... the FOXL2 gene have been found to cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There are ... and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205- ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics
  2. UBE3B gene 
    ... Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/ube3b - Genetics