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Updated: Jul 6, 2025

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

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马兰综合征的新型分子机制通过基因组测序再分析,外显子级数组和RNA测序来揭示

Jian Zhao1,2, Nicola Longo1,2,3, Robert G Lewis1,2

  • 1Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

American journal of medical genetics. Part A
|January 3, 2024
PubMed
概括

一种新的内基因NFIX重复导致一个儿童患有马兰综合征,导致NFIX的哈普洛缺陷. 这是第一个因这种特定遗传机制而导致的马兰综合征报告的病例.

关键词:
马兰综合征是什么? 马兰综合征是什么在 NFIX 系统中,NFIX 是复制复制复制复制复制复制过度生长 过度生长

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相关概念视频

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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