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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

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第一作者: Rainger,J.
作者单位: Institut für Medizinische Genetik, Charité Campus Virchow-Klinikum, 13353 Berlin, Germany [1] Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and [2] Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, United Kingdom [3] Department of Medical Genetics, University of Uludag, 16120 Bursa, Turkey [4] Centre for Genomics and Experimental Medicine, Medical Research Council Institute Genetics and [5] Paediatric Radiology Department, Haukeland University Hospital, 5021 Bergen, Norway [6] Im Fuchsberg 14, D76547 Sinzheim, Germany [7] Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics [8] Edinburgh Cancer Research Centre, Medical Research Council Institute of Genetics and Molecular [9] Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B [10] Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Jonas Liesvei 65 [11] Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway [12] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom [13] Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston [14]
发布时间 2014-11-04
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The American Journal of Human Genetics

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