4 De Baere De Baere E E Dixon Dixon MJ MJ Small Small KW KW Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation Hum Mol Genet. The gene discussed is FOXL2; the disease is ptosis.