2001•Nature GeneticsRequires access

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi, Francesca Chiappe, Manuela Uda, Patrizia Amati, Luigi Bisceglia, Leopoldo Zelante, Ramaiah Nagaraja, Susanna Porcu, Maria Serafina Ristaldi, R. Marzella, Mariano Rocchi, Marc P Nicolino, Anne Lienhardt-Roussie, Annie Nivelon, Alain Verloès, David Schlessinger, Paolo Gasparini, Dominique Bonneau, Antonio Cao, Giuseppe Pilia

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Key concepts: Blepharophimosis, Biology, Forkhead Transcription Factors, Genetics, Premature ovarian failure, Ptosis, Transcription factor, Gene