Identification of 34 Novel and 56 Known FOXL2 Mutations in Patients With Blepharophimosis Syndrome

Diane Beysen; Sarah De Jaegere; David Amor; Philippe Bouchard; Sophie Christin-Maitre; Marc Fellous; Philippe Touraine; Arthur W Grix; Raoul Hennekam; Francoise Meire; Nina Oyen; Louise C Wilson; Dalit Barel; Jill Clayton-Smith; Thomy de Ravel; Christian Decock; Patricia Delbeke; Regina Ensenauer; Friedrich Ebinger; Gabriele Gillessen-Kaesbach; Yvonne Hendriks; Virginia Kimonis; Rachel Laframboise; Paul Laissue; Kathleen Leppig; Bart P Leroy; David T Miller; David Mowat; Luitgard Neumann; Astrid Plomp; Nicole Van Regemorter; Dagmar Wieczorek; Reiner A Veitia; Anne De Paepe; Elfride De Baere

Journal article

Identification of 34 Novel and 56 Known FOXL2 Mutations in Patients With Blepharophimosis Syndrome

Diane Beysen, Sarah De Jaegere, David Amor, Philippe Bouchard, Sophie Christin-Maitre, Marc Fellous, Philippe Touraine, Arthur W Grix, Raoul Hennekam, Francoise Meire, Nina Oyen, Louise C Wilson, Dalit Barel, Jill Clayton-Smith, Thomy de Ravel, Christian Decock, Patricia Delbeke, Regina Ensenauer, Friedrich Ebinger, Gabriele Gillessen-Kaesbach Show all

Human Mutation | WILEY | Published : 2008

DOI: 10.1002/humu.20819

University of Melbourne Researchers

David Amor Author Paediatrics Royal Children's Hospital

Grants

Awarded by Bijzonder Onderzoeksfonds from Ghent University

Awarded by Research Foundation - Flanders (FWO-Vlaanderen)

Funding Acknowledgements

This study was supported by grant BOF2002/DRMAN/047 from the Bijzonder Onderzoeksfonds from Ghent University (to D.B.) and by grant 1.5.244.05 from the Research Foundation - Flanders (FWO-Vlaanderen) (to E.D.B.). We are most grateful to the families who participated in this study and to the clinicians and researchers who made this work possible.