Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 995-998

  Guerrini, Renzo ^a,b   Mei, Davide ^a   Cordelli, Duccio Maria ^c   Pucatti, Daniela ^a   Franzoni, Emilio ^c   Parrini, Elena ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

malformations of cortical development; mutation analysis; TUBB2B; tubulins

Indexed keywords

BETA TUBULIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; GENETIC IDENTIFICATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROGYRIA; MICROTUBULE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PACHYGYRIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TUBB2B GENE;

ADOLESCENT; AMINO ACID SUBSTITUTION; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LISSENCEPHALY; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROTUBULES; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; TUBULIN;

EID: 84865226287     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.21     Document Type: Article

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