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与EEF2相关的神经发育障碍在临床上是可识别的

Pankaj Prasun1, Kamakhya Patra1

  • 1Department of Pediatrics, West Virginia University Medicine, Morgantown, WV, USA.

Molecular syndromology
|October 3, 2024
PubMed
概括

在一个患有自闭症的孩子身上描述了一种与EEF2基因相关的新型神经发育障碍. 关键特征包括大脑和额头突出,有助于诊断.

关键词:
自闭症 自闭症 自闭症欧洲经济基金会 (EEF)环境环境2 EEF2神经发育障碍是一种神经发育障碍.蛋白质的翻译是蛋白质的翻译.

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