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Updated: Jul 23, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在TBX1网络中的染色体调节器在22q11.2DS中赋予了干性心脏缺陷的风险

Yingjie Zhao1, Yujue Wang1, Lijie Shi1

  • 1Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.

NPJ genomic medicine
|July 18, 2023
PubMed
概括

在22q11.2删除综合征 (22q11.2DS) 中鉴定了干性心脏缺陷的遗传修饰剂. 染色体调节基因对TBX1网络产生影响,这表明先天性心脏病 (CHD) 病因学的共享机制.

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