Article
[Rett syndrome-like phenotype caused by EEF1A2 gene in 2 children].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024
Wang Y Z, Zhang J K, Zhang F, Jiang X H, Zheng H, Ma B X
Abstract excerpt
2例患儿分别于2岁1月龄、8月龄时就诊，均表现为智力、言语及运动全面发育迟缓，伴有手足徐动、肌张力异常、手部刻板动作、睡眠障碍、小头畸形，符合Rett综合征样表型。通过全外显子家系测序分析发现，均携带EEF1A2基因的杂合变异，分别为c.424A>G（p.Thr142Ala）和 c.289G>C（p.Asp97His）。EEF1A2基因变异与Rett综合征样表型具有相关性。.
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