[PAX6 mutation caused brain abnormalities in humans].

Shujuan Song、Yingzhi Liu、Ri-chang Cong、Xiaoyan Zhang、Yang Zhenjiang、Lingsong Li

2005PubMedBiochemistry, Genetics and Molecular Biology被引 3

摘要

OBJECTIVE: To investigate the association between PAX6 mutation and brain abnormalities. METHODS: The brain structures of 18 affected patients and 6 normal controls in a large pedigree with a PAX6 mutation (c1080C-->T)were scanned with MRI assessing. RESULTS: Most of the affected patients showed brain abnormalities such as corpus callosum degeneration, broad cerebral ventricle grooves and broad olfactory grooves. CONCLUSION: Genetic defect of PAX6 gene may result in brain abnormalities.

引用本文（GB/T 7714）

Shujuan Song, Yingzhi Liu, Ri-chang Cong, 等. [PAX6 mutation caused brain abnormalities in humans].[J]. PubMed, 2005.

引文网络

参考文献与被引分析加载中…

本站仅收录题录与摘要供学习参考，全文版权归属出版方；如有侵权请联系我们删除。