"Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency"

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Blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. Click to show full abstract

Blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES.

Keywords: inversus syndrome; blepharophimosis ptosis; ptosis epicanthus; epicanthus inversus

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018

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