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Article

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Journal of medical genetics - 1 Oct 2002

Roberts E, Hampshire D J, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods C G

Abstract excerpt

BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. DESIGN: A study population of 56 consanguineous families resident in or originating from northern Pakistan was...

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Source

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Identifiers

PMID: 12362027
DOI: 10.1136/jmg.39.10.718
PMCID: PMC1734986

Genes

MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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