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
MeSH keywords: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 générale: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:scp/44449112275
info:pmid/18452193