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Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome

21 Nov 2014

Abstract excerpt

Blepharophimosis, ptosis, epicanthus-inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by narrow palpebral fissures and eyelid levator muscle defects. BPES is often associated to premature ovarian insufficiency (BPES type I). FOXL2, a member of the forkhead transcription factor family, is the only gene known to be mutated in BPES. Foxl2 is essential for maintenance of ovarian...

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PMID: 25416281
DOI: 10.1093/hmg/ddu579

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