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

par Désir, Julie ;Cassart, Marie ;David, Philippe ;Van Bogaert, Patrick ;Abramowicz, Marc
Référence American journal of medical genetics. Part A, 146A, 11, page (1439-1443)
Publication Publié, 2008-06

Article révisé par les pairs

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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