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Updated: Jun 26, 2025

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在智利一个患有棺材-西里斯综合征现象型的个体中,ARID2中的移变异

Fernanda Martin Merlez1, María González Zalazar1, Silvia Castillo Taucher2,3

  • 1Clinical Hospital, University of Chile, Santiago, Chile.

Journal of pediatric genetics
|May 9, 2024
PubMed
概括

棺材-西里斯综合征 (CSS) 是一种导致智力残疾的遗传疾病. 在一个智利女孩身上发现了一种新的ARID2基因突变,扩大了对CSS遗传原因和呈现的理解.

关键词:
在 ARID2 的 ARID2 里面.棺材 西里斯·西里斯智力障碍 智力障碍是一种智力障碍.神经发育障碍 神经发育障碍整体外基因组测序的测序

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