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Two patients with PNKP mutations presenting with microcephaly,seizure, and oculomotor apraxia
Authors:M. Taniguchi‐Ikeda  H. Inagaki  Y. Ouchi  Y. Takami  M. Tachikawa  W. Satake  K. Kobayashi  S. Tsuneishi  S. Takada  H. Yamaguchi  H. Nagase  K. Nozu  N. Okamoto  H. Nishio  T. Toda  I. Morioka  H. Wada  H. Kurahashi  K. Iijima
Affiliation:1. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan;2. Division of Genetic Counseling, Kobe University Hospital, Kobe, JapanThese authors contributed equally to this work;3. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan;4. Department of Pediatrics, Himeji Red Cross Hospital, Himeji, Japan;5. Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan;6. Medical and Welfare Center Kizuna, Kasai, Japan;7. Kobe University Graduate School of Health Sciences, Kobe, Japan;8. Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan;9. Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan;10. Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan;11. Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan;12. Medical and Welfare Center Sakura, Sanda, Japan
Abstract:
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