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相关实验视频

Updated: Jun 27, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

突然的意外产后崩和BUB1B突变:第一个法医病例报告.

Massimiliano Esposito¹, Francesco Sessa², Chiara Nannola³

¹Faculty of Medicine and Surgery, "Kore" University of Enna, Enna, 94100, Italy. massimiliano.esposito@unikore.it.

International journal of legal medicine

|April 25, 2024

概括

新生儿突然意外产后崩 (SUPC) 很少见,往往是致命的. 一个案例研究确定了BUB1B基因中的复合异构基因突变,可能与SUPC有关,但需要进一步研究来确认因果关系.

科学领域:

遗传学是一个遗传学.
新生儿医学新生儿医学
细胞生物学细胞生物学

背景情况:

突然意外产后崩 (SUPC) 是一个具有不良预后的关键新生儿事件.
在细胞分裂过程中,BUB1B基因在维持染色体稳定性方面发挥着至关重要的作用.
在BUB1B中发生的突变与马赛克多样化积症综合征1 (MVA1) 相关.

关键词:

尸体解剖是可以做的.这就是BUB1B突变.马赛克多彩的积症综合征突然的意想不到的产后崩.

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