RFX3 突变的婴儿癫痫痉挛综合征和自闭症谱系障碍一例。
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关键词: Epileptic encephalopathy Infantile spasms Neurodevelopmental disorders Regulatory factor X3 Whole-exome sequencing
来 源: DOI:10.1016/j.seizure.2023.09.004