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Home > D. Systemic pathology > Genetic and developmental anomalies > blepharophimosis, ptosis, and epicanthus inversus syndrome

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blepharophimosis, ptosis, and epicanthus inversus syndrome

MIM.110100 3q23

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).

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