title: [PAX6 mutation caused brain abnormalities in humans].
abstract: 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.
  
  
  CONCLUSIONS
  Genetic defect of PAX6 gene may result in brain abnormalities.
authors.affiliation: Peking University Stem Cell Research Center, Beijing 100083, China.
authors.forename: Shu-juan
authors.initials: SJ
authors.lastname: Song
authors.forename: Ying-zhi
authors.initials: YZ
authors.lastname: Liu
authors.forename: Ri-chang
authors.initials: RC
authors.lastname: Cong
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Zhang
authors.forename: Zhen-jiang
authors.initials: ZJ
authors.lastname: Yang
authors.forename: Ling-song
authors.initials: LS
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015783:Aniridia / Q000235:genetics*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins