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Open Access
Peer-reviewed
Research Article
Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
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Morad Ansari,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Jacqueline Rainger,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Isabel M. Hanson,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Kathleen A. Williamson,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Freddie Sharkey,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Louise Harewood,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Angela Sandilands,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Jill Clayton-Smith,
Affiliation Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, United Kingdom
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Helene Dollfus,
Affiliation Service de Génétique Médicale, Hôpital de Haute-Pierre, Strasbourg, France
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Pierre Bitoun,
Affiliation Medical Genetics Departments, University Hospital Jean Verdier, Bondy, France
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Francoise Meire,
Affiliation Department of ophthalmopediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Bruxelles, Belgium
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Judy Fantes,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Brunella Franco,
Affiliations Medical Genetics, Department of Medical Translational Sciences, Federico II University, Naples, Italy, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
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Birgit Lorenz,
Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg UKGM, Giessen, Germany
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David S. Taylor,
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
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Fiona Stewart,
Affiliation Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, United Kingdom
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Colin E. Willoughby,
Affiliation Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom
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Meriel McEntagart,
Affiliation Medical Genetics Unit, St George's University of London, London, United Kingdom
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Peng Tee Khaw,
Affiliation Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom
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Carol Clericuzio,
Affiliation Department of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, United States of America
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Lionel Van Maldergem,
Affiliation Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France
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Denise Williams,
Affiliation Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom
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Ruth Newbury-Ecob,
Affiliation Department of Clinical Genetics, University Hospitals, Bristol, United Kingdom
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Elias I. Traboulsi,
Affiliation Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, United States of America
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Eduardo D. Silva,
Affiliation Department Ophthalmology, University Hospital of Coimbra, Coimbra, Portugal
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Mukhlis M. Madlom,
Affiliation Children's Hospital, Doncaster Royal Infirmary, Doncaster, United Kingdom
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David R. Goudie,
Affiliation Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Ninewells Hospital, Dundee, United Kingdom
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Brian W. Fleck,
Affiliation Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, United Kingdom
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Dagmar Wieczorek,
Affiliations Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany, Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany
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Juergen Kohlhase,
Affiliation Center for Human Genetics, Freiburg, Germany
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Alice D. McTrusty,
Affiliation Department of Life Sciences, Glasgow Caledonian University, Glasgow, United Kingdom
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Carol Gardiner,
Affiliation Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom
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Christopher Yale,
Affiliation Department of Paediatrics and Child Health, Ipswich Hospital, Ipswich, United Kingdom
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Anthony T. Moore,
Affiliation Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom
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Isabelle Russell-Eggitt,
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
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Lily Islam,
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
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Melissa Lees,
Affiliation North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, United Kingdom
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Philip L. Beales,
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
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Stephen J. Tuft,
Affiliation Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom
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Juan B. Solano,
Affiliation Ruber International Hospital, Medical Genetics Unit, Mirasierra, Madrid, Spain
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Miranda Splitt,
Affiliation Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom
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Jens Michael Hertz,
Affiliation Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark
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Trine E. Prescott,
Affiliation Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
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Deborah J. Shears,
Affiliation Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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Ken K. Nischal,
Affiliation UPMC Eye Center, Children's Hospital of Pittsburgh of UPMC, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
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Martine Doco-Fenzy,
Affiliation Service de génétique, HMB CHU Reims, SFR Cap Sante. EA 3801, France
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Fabienne Prieur,
Affiliation CHU de Saint Etienne, Service de génétique médicale, Saint-Etienne, France
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I. Karen Temple,
Affiliation Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton, Southampton, United Kingdom
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Katherine L. Lachlan,
Affiliation Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
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Giuseppe Damante,
Affiliation Department of Medical and Biological Sciences, University of Udine, Udine, Italy
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Danny A. Morrison,
Affiliation St. Thomas’ Hospital, Westminster Bridge Road, London, United Kingdom
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Veronica van Heyningen,
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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David R. FitzPatrick
* E-mail: david.fitzpatrick@igmm.ed.ac.uk
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
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Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
- Morad Ansari,
- Jacqueline Rainger,
- Isabel M. Hanson,
- Kathleen A. Williamson,
- Freddie Sharkey,
- Louise Harewood,
- Angela Sandilands,
- Jill Clayton-Smith,
- Helene Dollfus,
- Pierre Bitoun
- Published: April 28, 2016
- https://doi.org/10.1371/journal.pone.0153757