Мутации гена FOXL2 при синдроме «Блефарофимоз-птоз-обратный эпикант»

Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a disease characterized by malformations of the eyelids: ptosis, blepharophimosis and the presence of a reverse epicant or telecant (BPES). This syndrome in women can be accompanied by a premature ovarian exhaustion syndrome and related infertility. This work summarizes the results of FOXL2 gene analysis for 24 patients from 19 unrelated families with an incoming diagnosis. Mutations were detected in 10 unrelated families