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Article

The molecular landscape of ASPM mutations in primary microcephaly.

Journal of medical genetics - 1 Apr 2009

Nicholas A K, Swanson E A, Cox J J, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns W B, Woods C G

Abstract excerpt

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a model disease to study human neurogenesis. In affected individuals the brain grows at a reduced rate during fetal life resulting in a small but structurally normal brain and mental retardation. The condition is genetically heterogeneous with mutations in ASPM being most commonly reported. METHODS AND RESULTS: We have examined this further by...

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Source

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Identifiers

PMID: 19028728
DOI: 10.1136/jmg.2008.062380
PMCID: PMC2658750

Genes

ASPM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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