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Updated: Jul 12, 2025

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在CHD2基因中出现了一种新的 de novo frameshift 变异,与智力和发育障碍,发作和语言问题有关

Atefeh Mir1, Yongjun Song2, Hane Lee2

  • 1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Molecular genetics & genomic medicine
|October 25, 2023
PubMed
概括

在一个患有发育迟缓和的男孩身上发现了CHD2基因中的一种新的有害突变. 这一发现有助于了解CHD2相关疾病,并可能指导未来治疗相关疾病.

关键词:
CHD2 CHD2 的意思是迪伊·迪伊是什么意思伊朗 伊朗 伊朗 伊朗发育延迟的发展延迟.复制复制复制复制复制复制是一种.智力障碍 智力障碍是一种智力障碍.

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