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Updated: Jan 6, 2026

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在GATA4的致病变体与心室隔膜缺陷和先天性隔膜有关:一个病例报告

John Howat1, Trisha Vigneswaran2, Aris Papageorghiou3

  • 1SW Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, UK.

European journal of medical genetics
|November 12, 2025
PubMed
概括

在一个患有先天性心脏缺陷和腹膜的胎儿身上发现了一种从母亲遗传的致病性GATA4基因变异. 这一发现加强了GATA4基因变异与先天性隔膜之间的联系.

关键词:
生产性腹膜带 Hernia 是一种先天性腹膜.遗传性心脏病是一种先天性心脏病.在 GATA4 中,GATA4

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