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Updated: Jun 11, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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c.231+4A>C热点变体与一种新的神经发育综合征有关:第一个患者队列

Sivan Reytan Miron1, Alina Kurolap1, Bassam Abu-Libdeh2

  • 1The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Journal of medical genetics
|April 9, 2025
PubMed
概括

在儿童中发现了一种由LSM1基因变异c.231+4A>C引起的新型遗传疾病. 这种变异导致神经发育问题和多系统性问题,使LSM1成为引起疾病的基因.

关键词:
中枢神经系统疾病 中枢神经系统疾病出生,遗传和新生儿疾病和异常.异构体序列化 异构体序列化遗传学 是一个遗传学.天生的遗传疾病 天生的遗传疾病

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