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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic

Harshini Hariram1, Khadijah Rafi'ee2, Jiin Ying Lim3

  • 1School of Medical Science, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK.

BMJ Case Reports
|August 26, 2025
PubMed

Keywords:
Genetic screening / counsellingGenetics

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