Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2005
[PAX6 mutation caused brain abnormalities in humans].
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Song Shu-juan, Liu Ying-zhi, Cong Ri-chang, Zhang Xiao-yan, Yang Zhen-jiang, Li Ling-song
Аннотация
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.
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.