A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A
详细信息 查看全文
- 作者：Guoling Tian ; Ana G. Cristancho ; Holly A. Dubbs ; Grant T. Liu ; Nicholas J. Cowan and Ethan M. Goldberg
- 刊名：Molecular Genetics & Genomic Medicine
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：4
- 期：6
- 页码：599-603
- 全文大小：547K
- ISSN：2324-9269
文摘
Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly.