A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

Developmental Medicine and Child Neurology

Volumn 54, Issue 8, 2012, Pages 765-769

  Romaniello, Romina ^a   Tonelli, Alessandra ^a   Arrigoni, Filippo ^a   Baschirotto, Cinzia ^a   Triulzi, Fabio ^b   Bresolin, Nereo ^c   Bassi, Maria Teresa ^a   Borgatti, Renato ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b V BUZZI CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BETA TUBULIN; GLYCINE;

AGENESIS; ARTICLE; BASAL GANGLION; CASE REPORT; CEREBELLUM VERMIS; CHILD; CORPUS CALLOSUM; CORTICAL DYSPLASIA; FEMALE; GENE; HETEROZYGOTE; HUMAN; MICROCEPHALY; MICROTUBULE; MISSENSE MUTATION; NERVE FIBER; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PARIETAL LOBE; PRIORITY JOURNAL; SCHIZENCEPHALY; SCHOOL CHILD; THALAMUS; TUBA1A GENE; TUBA8 GENE; TUBB2B GENE; TUBB3 GENE;

ALTERNATIVE SPLICING; AXONS; BRAIN; CHILD; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROCEPHALY; MUTATION, MISSENSE; TUBULIN;

EID: 84863777103     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04316.x     Document Type: Article

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