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blepharophimosis, ptosis, and epicanthus inversus syndrome

MIM.110100 3q23

Wednesday 18 June 2008

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), either with premature ovarian failure (BPES type 1) or without (BPES type 2), is caused by mutations in the FOXL2 gene (MIM.605597).