Biallelic mutations in <em>UGDH</em> cause congenital microcephaly

Li Shu; Guangyao Xie; Daoqi Mei; Rui Xu; Shixian Liu; Bo Xiao; Xing Li; Yuanyuan Xie; Xiao Mao; Hua Wang

doi:10.1016/j.gendis.2022.12.007

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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
- Biallelic mutations in UGDH cause congenital microcephaly
- Genes & Diseases 2023年10卷第5期
- 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
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2022.12.007
  中图分类号：
- 纸质出版日期：2023，
  
  网络出版日期：2023-9-1，
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Li Shu, Guangyao Xie, Daoqi Mei, 等. Biallelic mutations in UGDH cause congenital microcephaly[J]. Genes & Diseases, 2023,10(5).

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

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

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Biallelic mutations in UGDH cause congenital microcephaly

Biallelic mutations in UGDH cause congenital microcephaly

DOI：10.1016/j.gendis.2022.12.007

摘要

Abstract

关键词

Keywords

references