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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

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作者单位: Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium; pxlence BVBA, 9200 Dendermonde, Belgium. Electronic address: frauke.coppieters@ugent.be. [1] Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium. [2] Department of Ophthalmology, University of Cologne, 50931 Cologne, Germany. [3] Unit of Medical Genetics, Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland. [4] Flanders Institute for Biotechnology (VIB), Department of Medical Protein Research, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium. [5] Department of Ophthalmology, University of Cologne, 50931 Cologne, Germany; Therapeutic Research Group Ophthalmology, Bayer Pharma AG, 42096 Wuppertal, Germany. [6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. [7] Pediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, 1000 Brussels, Belgium. [8] Genetic Sensory Diseases, Centre Hospitalier Universitaire de Montpellier, 34295 Montpellier, France; Université Montpellier, 34090 Montpellier, France; INSERM U1051, Institut des Neurosciences de Montpellier, 34091 Montpellier, France. [9] Department of Ophthalmology, Medical School, University of Crete, 71409 Heraklion, Greece. [10] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. [11] Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 100730 Beijing, China. [12] Department of Ophthalmology, Hôpital Universitaire des Enfants Reine Fabiola, 1000 Brussels, Belgium. [13] Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium; Department of Ophthalmology, Ghent University Hospital and Ghent University, 9000 Ghent, Belgium; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. [14] Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium. Electronic address: elfride.debaere@ugent.be. [15]
DOI 10.1016/j.ajhg.2016.06.017
PMID 27486781
发布时间 2020-08-24
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American journal of human genetics

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