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Article

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

European journal of medical genetics - 1 Jan 2000

Saadi Abdelkrim, Borck Guntram, Boddaert Nathalie, Chekkour Mohamed Chahine, Imessaoudene Belaïd, Munnich Arnold, Colleaux Laurence, Chaouch Malika

Abstract excerpt

Homozygous mutations in the ASPM gene are a major cause of autosomal recessive primary microcephaly (MCPH). Here we report on a consanguineous Algerian family in which three out of five children presented with severe microcephaly, simplified cortical gyration, mild to severe mental retardation an...

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Source

Identifiers

PMID: 19332161
DOI: 10.1016/j.ejmg.2009.03.013

Genes

ASPM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19332161-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.PMID 19332161Read ↗

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