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A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology
Authors:Nobuhiko Okamoto  Yuki Tsuchiya  Fuyuki Miya  Tatsuhiko Tsunoda  Kumiko Yamashita  Keith A. Boroevich  Mitsuhiro Kato  Shinji Saitoh  Mami Yamasaki  Yonehiro Kanemura  Kenjiro Kosaki  Daiju Kitagawa
Affiliation:1. Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan;2. Department of Molecular Medicine, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan;3. National Institute of Genetics, Department of Molecular Genetics, Division of Centrosome Biology, Mishima, Shizuoka, Japan;4. Department of Genetics, School of Life Science, The Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka, Japan;5. Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan;6. Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan;7. Biwako Gakuen Kusatsu Medical and Welfare Center for Children and Persons with Severe Motor and Intellectual Disabilities, Kusatsu, Japan;8. Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan;9. Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan;10. Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan;11. Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan;12. Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan;13. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
Abstract:
Keywords:abnormal spindle morphology  centrosome  intellectual disability  kinesin  STARD9
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