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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype
Authors:Joseph T. Alaimo  Magdalena Walkiewicz  Seth Berger  Elizabeth Roeder  Eissa A. Faqeih  Jonathan A. Bernstein  Ann C. M. Smith  Sureni V. Mullegama  David W. Saffen  Sarah H. Elsea
Affiliation:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Baylor Genetics Laboratory, Houston, Texas;3. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;4. Departments of Pediatrics, Baylor College of Medicine, San Antonio, Texas;5. Department of Pediatrics Subspecialty, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia;6. Department of Pediatrics, Stanford University School of Medicine, Stanford, California;7. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;8. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California;9. Department of Cellular and Genetic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, China;10. Institutes of Brain Science, Fudan University, Shanghai, China;11. State Key Laboratory for Medical Neurobiology, Fudan University, Shanghai, China
Abstract:
Keywords:clinical exome sequencing (CES)  deformed epidermal autoregulatory factor‐1 (DEAF1)‐associated neurodevelopmental disorder (DAND)  intellectual disability (ID)  nuclear localization signal (NLS)  SAND
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