Mutations ofVMD2Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Jill Yardley1, Bart P. Leroy2,3, Niki Hart‐Holden1, B A Lafaut4, Bart Loeys2, Ludwine Messiaen2, Rahat Perveen1, M. Ashwin Reddy5, Shomi S. Bhattacharya5, Elias I. Traboulsi6, Diana Baralle7, Jean‐Jacques De Laey8, Bernard Puech9, Philippe Kestelyn8, Julian Halcox5, Forbes Manson10,11, Graeme Black10,11
1From the Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary’s Hospital, Manchester, United Kingdom;
2Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
3Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium;4Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium;
4Department of Ophthalmology, St-Jan General Hospital, Bruges, Belgium;
5Institute of Ophthalmology, London, United Kingdom
6Department of Ophthalmic Research, Cole Eye Institute, Cleveland, Ohio
7Department of Medical Genetics, Addenbrookes Hospital, Cambridge, United Kingdom;
8Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
9Exploration Fonctionelle de la Vision, Centre Hospitalier Re´gional Universitaire, Ho^pital Roger Salengro, Lille Cedex, France;
10Centre for Molecular Medicine, University of Manchester, Manchester, United Kingdom
11From the Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary’s Hospital, Manchester, United Kingdom;10Academic Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester, United Kingdom;11Centre for Molecular Medicine, Un
Tóm tắt
Từ khóa
Tài liệu tham khảo
Thông tin
Thông tin xuất bản
Investigative Ophthalmology and Visual Science
Tập 45 Số 10
3683
Thông tin tác giả