Biallelic mutations in UGDH cause congenital microcephaly

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

Affiliations

Li Shu

National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary T2N 4N1, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 4N1, Canada

Guangyao Xie

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

Daoqi Mei

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

Rui Xu

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

Shixian Liu

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

Bo Xiao

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

Xing Li

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

Yuanyuan Xie

Department of Neurology, Xiangya Hospital, Changsha, Hunan 410005, China; Corresponding author.

Xiao Mao

National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China; Clinical Research Center for Placental Medicine in Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China; Corresponding author. National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China.

Hua Wang

Department of Medical Genetics, Hunan Children's Hospital, Changsha, Hunan 410007, China; Corresponding author.