A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2

European Journal of Human Genetics

Volumn 5, Issue 4, 1997, Pages 186-190

  Faiella, Antonio ^a   Brunelli, Silvia ^a   Granata, Tiziana ^a   D'Incerti, Ludovico ^a   Cardini, Roldano ^b   Lenti, Carlo ^b   Battaglia, Giorgio ^a   Boncinelli, Edoardo ^a,c,d  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c CNR   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Brain; Cerebral cortex; Dysgenesis; Homeobox; Mutations

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; CEREBROSPINAL FLUID; CLINICAL ARTICLE; EMBRYO PATTERN FORMATION; FOREBRAIN; GENE MUTATION; HEMISPHERE; HOMEOBOX; HUMAN; INTRON; PRIORITY JOURNAL; RNA SPLICING; SCHIZENCEPHALY; SIBLING;

EID: 0030707886     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484761     Document Type: Article

References (12)

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