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Updated: Jun 25, 2025

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在HACE1中的一个误解变体与巴基斯坦亲属的智力障碍,,和精神运动障碍有关

Muhammad A Usmani1,2,3, Amama Ghaffar1,4, Mohsin Shahzad2

  • 1Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

Genes
|May 25, 2024
PubMed
概括

一种罕见的HACE1基因变异 (p.(Leu117Ser)) 与神经发育障碍 (NDD) 有关,包括兄弟姐妹的智力障碍和. 这一发现扩大了NDD的已知遗传原因.

关键词:
NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD自体逆行性自体逆行性.是一种.外基因组测序是指外基因组的测序.智力障碍 智力障碍是一种智力障碍.

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