Human exome sequencing analysis
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare inherited developmental condition that mainly affects eyelids. FOXL2 variants have been implicated in its etiology; however, detailed studies are lacking. Identifying FOXL2 mutations and genotype-phenotype associations will improve the current understanding of the role of these mutations in the pathogenesis of BPES.