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Biallelic mutations in UGDH cause congenital microcephaly
Short communication | 更新时间:2023-08-29
    • Biallelic mutations in UGDH cause congenital microcephaly

    • Genes & Diseases   Vol. 10, Issue 5, (2023)
    • 作者机构:

      1. Clinical Research Center for Placental Medicine in Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital,Hunan,Changsha,China,410005

      2. Department of Cell Biology and Genetics, School of Basic Medical Science, Xinjiang Medical University,Xinjiang,Urumqi,China,830054

      3. Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital,Hunan,Changsha,China,410005

      4. Department of Neurology, Xiangya Hospital,Hunan,Changsha,China,410005

      5. Department of Medical Genetics, Hunan Children's Hospital,Hunan,Changsha,China,410007

      6. Alberta Children's Hospital Research Institute, University of Calgary,Calgary,Canada,T2N 4N1

      7. National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital,Hunan,Changsha,China,410005

      8. Department of Neurology, Children's Hospital Affiliated to Zhengzhou University,Henan,Zhengzhou,China,450018

      9. Department of Pediatric Neurological and Rehabilitation, Ganzhou Women and Children's Health Care Hospital,Jiangxi,Ganzhou,China,341000

      10. Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary,Calgary,Canada,T2N 4N1

      11. Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University,Guangxi,Nanning,China,530021

    • DOI:10.1016/j.gendis.2022.12.007    

      CLC:
    • Published:2023,

      Published Online:1 September 2023,

    扫 描 看 全 文

  • Li Shu, Guangyao Xie, Daoqi Mei, et al. Biallelic mutations in UGDH cause congenital microcephaly. [J]. Genes & Diseases 10(5).(2023) DOI: 10.1016/j.gendis.2022.12.007.

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