FOXL2 Proteins and Enzymes

There are 2 forms of the blepharophimosis/ptosis/epicanthus inversus syndrome. In one form, called type I, eyelid abnormalities are associated with ovarian failure. In the second type, called type II, only the eyelid defects are found. Both types map to 3q23. Crisponi et al. (2001) refined the physical mapping of the BPES critical region and positi...