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Article

Protein-truncating mutations in ASPM cause variable reduction in brain size.

American journal of human genetics - 1 Nov 2003

Bond Jacquelyn, Scott Sheila, Hampshire Daniel J, Springell Kelly, Corry Peter, Abramowicz Marc J, Mochida Ganesh H, Hennekam Raoul C M, Maher Eamonn R, Fryns Jean-Pierre, Alswaid Abdulrahman, Jafri Hussain, Rashid Yasmin, Mubaidin Ammar, Walsh Christopher A, Roberts Emma, Woods C Geoffrey

Abstract excerpt

Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and mental retardation. We have performe...

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Identifiers

PMID: 14574646
DOI: 10.1086/379085
PMCID: PMC1180496

Genes

ASPM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-14574646-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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