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YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Wan, Rui-Ping; Liu, Zhi-Gang; Huang, Xiao-Fei; Kwan, Ping; Li, Ya-Ping; Qu, Xiao-Chong; Ye, Xing-Guang; Chen, Feng-Ying; Zhang, Da-Wei; He, Ming-Feng; Wang, Jie; Mao, Yu-Ling; Qiao, Jing-Da.
  • Wan RP; Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, Guangdong 528011, China.
  • Liu ZG; Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, Guangdong 528011, China.
  • Huang XF; Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, Guangdong 528011, China.
  • Kwan P; School of Veterinary Science, University of Sydney, Sydney 2050, Australia.
  • Li YP; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.
  • Qu XC; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.
  • Ye XG; Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, Guangdong 528011, China.
  • Chen FY; Department of Radiology, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, Guangdong 528011, China.
  • Zhang DW; Department of Radiology, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, Guangdong 528011, China.
  • He MF; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.
  • Wang J; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.
  • Mao YL; Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China.
  • Qiao JD; Key Laboratory for Reproductive Medicine of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China.
Hum Mol Genet ; 32(3): 462-472, 2023 01 13.
Article en En | MEDLINE | ID: mdl-36001342

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Malformaciones del Sistema Nervioso Tipo de estudio: Etiology_studies Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Malformaciones del Sistema Nervioso Tipo de estudio: Etiology_studies Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article