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A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice

23 Feb 2014

Abstract excerpt

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by small palpebral fissures and other craniofacial malformations, often with (type I) but could also without (type II) premature ovarian failure. While mutations of the forkhead transcription factor FOXL2 are associated with and likely be responsible for many BPES cases, how FOXL2 affects...

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PMID: 24565867
DOI: 10.1093/hmg/ddu092

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