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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

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作者单位: Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center [1] Departments of Neurology, Pediatrics and Biomedical Genetics, Center for Neural Development and [2] Department of Pediatrics, Louisiana State University, Health Sciences Center, New Orleans, LA [3] Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, United States [4] Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, United States, Paw Print Genetics [5] Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States [6] ARUP Laboratories, University of Utah, Salt Lake City, UT, United States [7] Department of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States [8] Department of Neurology, Stanford University, Stanford, CA, United States [9] Division of Medical Genetics, Department of Child Health, University of Missouri, Columbia, MO [10] Division of Medical Genetics, North Shore Long Island Jewish Health System, New Hyde Park, NY [11] Department of Pediatrics, Seattle Children's Research Institute, University of Washington, Seattle [12] Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions [13] Department of Medical Genetics/Metabolism, Children's Hospital of Central California, Madera, CA [14] Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States [15] Lineagen, Inc., Salt Lake City, UT, United States [16]
发布时间 2013-11-20
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