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Updated: Jul 11, 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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一种新的KNL1内部拼接变体可能会破坏KMN复合物的稳定,导致一次性小头

Bridget J Fellows1, Giovanna Cantini Tolezano2, Sara Ferreira Pires2

  • 1Department of Biochemistry, University of Otago, Dunedin, New Zealand.

American journal of medical genetics. Part A
|November 8, 2023
PubMed
概括

在KNL1基因的遗传变异导致初级小头症 (MCPH). 在KNL1中,一种新的拼接变体破坏了动态基因,导致MCPH和兄弟姐妹的智力障碍.

关键词:
在KNL1上.微头症是一个微头症.拼接 拼接 拼接 拼接

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