De Novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
The American Journal of Human Genetics（2020）
关键词
hypomyelination,abnormal myelination,hypotonia,movement disorders,cognitive impairment,regression,febrile illnesses,integrated stress response,EIF2S1,EIF2α
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