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Open Access
Peer-reviewed
Research Article
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
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Joe Rainger,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Ellen van Beusekom,
Affiliation Department of Human Genetics, Institute for Genetic and Metabolic Disorders and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Jacqueline K. Ramsay,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Lisa McKie,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Lihadh Al-Gazali,
Affiliation Departments of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates
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Rosanna Pallotta,
Affiliation Regional Service for Diagnosis, Prevention, and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G. D'Annunzio University, Chieti, Italy
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Anita Saponari,
Affiliation Regional Service for Diagnosis, Prevention, and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G. D'Annunzio University, Chieti, Italy
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Peter Branney,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Malcolm Fisher,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Harris Morrison,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Louise Bicknell,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Philippe Gautier,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Paul Perry,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Kishan Sokhi,
Affiliations Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom, Department of Orthopaedics and Trauma, University of Edinburgh, Royal Infirmary of Edinburgh, Little France, Edinburgh, United Kingdom
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David Sexton,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Tanya M. Bardakjian,
Affiliation Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States of America
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Adele S. Schneider,
Affiliation Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States of America
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Nursel Elcioglu,
Affiliation Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey
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Ferda Ozkinay,
Affiliation Ege University, Medical Faculty, Department of Pediatrics, Izmir, Turkey
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Rainer Koenig,
Affiliation Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany
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Andre Mégarbané,
Affiliation Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon
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C. Nur Semerci,
Affiliation Department of Medical Genetics, School of Medicine, Pamukkale University, Denizli, Turkey
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Ayesha Khan,
Affiliation Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan
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Saemah Zafar,
Affiliation Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan
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Raoul Hennekam,
Affiliation Department of Pediatrics and Department of Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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Sérgio B. Sousa,
Affiliation Serviço Genética Médica, Hospital Pediátrico de Coimbra, Portugal
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Lina Ramos,
Affiliation Serviço Genética Médica, Hospital Pediátrico de Coimbra, Portugal
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Livia Garavelli,
Affiliation Department of Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy
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Andrea Superti Furga,
Affiliation Department of Pediatrics, University of Lausanne, Switzerland
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Anita Wischmeijer,
Affiliation Department of Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy
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Ian J. Jackson,
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Gabriele Gillessen-Kaesbach,
Affiliation Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany
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Han G. Brunner,
Affiliation Department of Human Genetics, Institute for Genetic and Metabolic Disorders and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Dagmar Wieczorek,
Affiliation Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
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Hans van Bokhoven ,
* E-mail: david.fitzpatrick@hgu.mrc.ac.uk (DRF); H.vanBokhoven@antrg.umcn.nl (HvB)
Affiliation Department of Human Genetics, Institute for Genetic and Metabolic Disorders and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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David R. FitzPatrick
* E-mail: david.fitzpatrick@hgu.mrc.ac.uk (DRF); H.vanBokhoven@antrg.umcn.nl (HvB)
Affiliation Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
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Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
- Joe Rainger,
- Ellen van Beusekom,
- Jacqueline K. Ramsay,
- Lisa McKie,
- Lihadh Al-Gazali,
- Rosanna Pallotta,
- Anita Saponari,
- Peter Branney,
- Malcolm Fisher,
- Harris Morrison
- Published: July 7, 2011
- https://doi.org/10.1371/journal.pgen.1002114