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Article

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

American journal of human genetics - 1 May 2005

Woods C Geoffrey, Bond Jacquelyn, Enard Wolfgang

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. The microcephaly is the consequence of a small but architecturally normal brain, and it is the cerebral cortex that shows the greatest size reduction. There are at least seven MCPH loci, and four of the genes have been...

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Source

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Identifiers

PMID: 15806441
DOI: 10.1086/429930
PMCID: PMC1199363

Genes

ASPM
MCPH1

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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