Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

American Journal of Medical Genetics, Part A

Volumn 146, Issue 11, 2008, Pages 1439-1443

  Desir, Julie ^a,b   Cassart, Marie ^a   David, Philippe ^a   Van Bogaert, Patrick ^a   Abramowicz, Marc ^a,b  

^a ERASME HOSPITAL   (Belgium)

^b UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

Asymmetric cell division; Brain development; Consanguinity; Genotype phenotype correlation; Prenatal diagnosis; Primary microcephaly

Indexed keywords

ARTICLE; BRAIN CORTEX; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CONSANGUINITY; CONTROLLED STUDY; ECHOENCEPHALOGRAPHY; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GESTATION PERIOD; HOMOZYGOSITY; HUMAN; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERINATAL PERIOD; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CEREBRAL CORTEX; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; CODON, NONSENSE; CONSANGUINITY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; NERVE TISSUE PROTEINS; PEDIGREE; PREGNANCY; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY, PRENATAL;

EID: 44449112275     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32312     Document Type: Article

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