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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

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作者单位: Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America. [1] Harvard Medical School, Boston, MA, United States of America. [2] Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America. [3] Jungers Center for Neurosciences Research, Department of Neurology, Oregon Health & Science University, Portland, OR, United States of America. [4] The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America. [5] Scheie Eye Institute, Department of Ophthalmology, Philadelphia, PA, United States of America. [6] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America. [7] Cincinnati Eye Institute, Cincinnati, Ohio, United States of America. [8] Molecular and Behavior Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States of America. [9] Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, United Kingdom. [10] Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom. [11] Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, United States of America. [12] Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma, Oklahoma City, OK. [13] Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America. [14] Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America. [15] Department of Epidemiology, University of Michigan, Ann Arbor, MI, United States of America. [16]
DOI 10.1371/journal.pgen.1008130
PMID 31048900
发布时间 2023-10-11
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