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Updated: Jan 10, 2026

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在Mullegama-Klein-Martinez综合征的新型STAG2框架转移变异,并具有复杂的心脏缺陷

Hua Wang1

  • 1Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA.

Genes
|November 27, 2025
PubMed
概括

由STAG2变体引起的Mullegama-Klein-Martinez综合征 (MKMS) 与女性婴儿的复杂先天性心脏病有关. 这个案例突出了STAG2的重点.

关键词:
穆莱加玛·克莱恩·马丁内斯综合征第二个阶段:第二个阶段这是一种X相关性疾病.凝聚力复杂的凝聚力复杂.遗传性心脏病是一种先天性心脏病.框架转移变体的变体结构建模结构建模整体外因子测序的测序

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