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Nature Genetics 27, 159–166 (1 February 2001) | doi:10.1038/84781

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 , M. Serafina Ristaldi , Rosalia Marzella , Mariano Rocchi , Marc Nicolino , Anne Lienhardt-Roussie , Annie Nivelon , Alain Verloes , David Schlessinger , Paolo Gasparini , Dominique Bonneau , Antonio Cao & Giuseppe Pilia