Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.

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Bibliographic Details
Main Authors:	Littink, Karin (Author) , Koenekoop, Robert K. (Author) , van den Born, L. Ingeborgh (Author) , Collin, Rob W. J. (Author) , Moruz, Luminita (Author) , Veltman, Joris A. (Author) , Roosing, Susanne (Author) , Zonneveld, Marijke N. (Author) , Omar, Amer (Author) , Darvish, Mahshad (Author) , Lopez, Irma (Author) , Kroes, Hester Y. (Author) , van Genderen, Maria M. (Author) , Hoyng, Carel B. (Author) , Rohrschneider, Klaus (Author) , van Schooneveld, Mary J. (Author) , Cremers, Frans P. M. (Author) , den Hollander, Anneke I. (Author)
Format:	Article (Journal)
Language:	English
Published:	2010
In:	Investigative ophthalmology & visual science Year: 2010, Volume: 51, Issue: 11, Pages: 5943-5951
ISSN:	1552-5783
DOI:	10.1167/iovs.10-5797
Online Access:	Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1167/iovs.10-5797 Verlag, lizenzpflichtig, Volltext: https://iovs.arvojournals.org/article.aspx?articleid=2127110
Author Notes:	Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, Rob W.J. Collin, Luminita Moruz, Joris A. Veltman, Susanne Roosing, Marijke N. Zonneveld, Amer Omar, Mahshad Darvish, Irma Lopez, Hester Y. Kroes, Maria M. van Genderen, Carel B. Hoyng, Klaus Rohrschneider, Mary J. van Schooneveld, Frans P.M. Cremers, and Anneke I. den Hollander

Description
Summary:	To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.
Item Description:	Gesehen am 28.03.2023
Physical Description:	Online Resource
ISSN:	1552-5783
DOI:	10.1167/iovs.10-5797