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Updated: Jul 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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患有DDX3X-相关智力障碍的女孩的丹迪-沃克尔形

Karima Rafat1, Mohamed S Abdel-Hamid2, Ghada M H Abdel-Salam1

  • 1Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Molecular syndromology
|December 7, 2023
PubMed
概括

在一个患有严重智力障碍和独特先天性异常的儿童身上,发现了DDX3X基因中的新型de novo missense变异. 这扩大了对DDX3X相关疾病的理解.

关键词:
自闭症谱系障碍 自闭症谱系障碍这是一个DDX3XX.丹迪 - 步行者形智力障碍 智力障碍是一种智力障碍.

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