期刊论文详细信息
Journal of Central Nervous System Disease | |
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4 | |
Original Research | |
Saeed Al Tala1  Saud Alsahli2  Fuad Al Mutairi3  Majid Alfadhel3  Muhammad Talal Alrifai4  | |
[1] Division of Genetics, Department of Pediatrics, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; | |
关键词: CAMRQ4; ataxia; mental retardation; intellectual disability; disequilibrium syndrome; ATP8A2; WES; encephalopathy; hypotonia; chorea; choreoathetoid movements; optic atrophy; | |
DOI : 10.1177/1179573518759682 | |
received in 2017-08-06, accepted in 2018-01-26, 发布年份 2018 | |
来源: Sage Journals | |
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