- Human pathology

Home > F. Pathology by regions > Head and neck > Head > Face > Orbits > Eyes > blepharophimosis syndrome

blepharophimosis syndrome

Thursday 2 October 2003

Blepharophimosis syndrome is an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure.


- mutations in FOXL2, a putative forkhead transcription factor gene