Article révisé par les pairs
Titre :
  • Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.
Auteur : Désir, Julie ; Cassart, Marie ; David, Philippe ; Van Bogaert, Patrick ; Abramowicz, Marc
Informations sur la publication : American journal of medical genetics. Part A, 146A, 11, (page 1439-1443)
Statut de publication : Publié, 2008-06
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés : Asymmetric cell division
Brain development
Consanguinity
Genotype-phenotype correlation
Prenatal diagnosis
Primary microcephaly
Mots-clés MeSH : Cerebral Cortex -- abnormalities
Child, Preschool
Chromosomes, Human, Pair 1 -- genetics
Codon, Nonsense
Consanguinity
Female
Frameshift Mutation
Humans
Infant, Newborn
Linkage (Genetics)
Magnetic Resonance Imaging
Male
Microcephaly -- genetics
Nerve Tissue Proteins -- genetics
Pedigree
Pregnancy
Sequence Analysis, DNA
Ultrasonography, Prenatal
Note : Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langue :
  • Anglais
Identificateurs : urn:issn:1552-4833 
info:doi/10.1002/ajmg.a.32312
info:pmid/18452193