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Updated: Jun 10, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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RNU4-2的面孔和特征:一种新的,常见的,可识别的,但隐藏的神经发育障碍

Kristen Barbour1, Matthew N Bainbridge2, Kristen Wigby3

  • 1Division of Genetics and Dysmorphology, Department of Pediatrics, University of California, San Diego, Rady Children's Hospital, San Diego, California.

Pediatric neurology
|October 18, 2024
PubMed
概括

一个新的基因,RNU4-2,导致神经发育障碍 (NDD),但很难用标准测试来诊断. 这项研究确定了帮助早期诊断RNU4-2变异的关键特征.

关键词:
基因组测序是指基因组的测序.智力障碍 智力障碍是一种智力障碍.神经发育障碍 神经发育障碍没有编码基因的基因.结合体病变是一种结合体病变 (spliceosomopathy).

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