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Article

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Orphanet journal of rare diseases - 13 Jun 2011

Mahmood Saqib, Ahmad Wasim, Hassan Muhammad J

Abstract excerpt

Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced number of generated cerebral cortical neurons during embryonic neurogensis. So far, seven genetic loci (MCPH1-7) for this condition...

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Source

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Identifiers

PMID: 21668957
DOI: 10.1186/1750-1172-6-39
PMCID: PMC3123551

Genes

ASPM
MCPH1
STIL

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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