Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Author:

Littink Karin W.1,Koenekoop Robert K.2,van den Born L. Ingeborgh3,Collin Rob W. J.4,Moruz Luminita5,Veltman Joris A.6,Roosing Susanne7,Zonneveld Marijke N.1,Omar Amer2,Darvish Mahshad2,Lopez Irma2,Kroes Hester Y.8,van Genderen Maria M.9,Hoyng Carel B.10,Rohrschneider Klaus11,van Schooneveld Mary J.12,Cremers Frans P. M.13,den Hollander Anneke I.14

Affiliation:

1. From the The Rotterdam Eye Hospital, Rotterdam, The Netherlands; the Departments of 2Human Genetics and

2. the McGill Ocular Genetics Laboratory, Montreal Children's Hospital Research Institute, McGill University Health Centre, Montreal, Quebec, Canada;

3. From the The Rotterdam Eye Hospital, Rotterdam, The Netherlands;

4. the Departments of Human Genetics and 6Ophthalmology, the 5Nijmegen Centre for Molecular Life Sciences, and

5. the Departments of Human Genetics and the 7Center for Biomembrane Research, Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden;

6. the Departments of Human Genetics and the 8Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;

7. the Departments of Human Genetics and

8. the Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands;

9. the Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands;

10. Ophthalmology,

11. the Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany;

12. the Netherlands Institute of Neuroscience, Amsterdam, The Netherlands; and the 13Department of Ophthalmology, Academic Medical Centre, Amsterdam, The Netherlands.

13. the Departments of Human Genetics and the 5Nijmegen Centre for Molecular Life Sciences, and

14. the Departments of Human Genetics and 6Ophthalmology, the 5Nijmegen Centre for Molecular Life Sciences, and the 8Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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