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Article

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

BMC medical genetics - 1 Sept 2007

Hassan Muhammad Jawad, Khurshid Maryam, Azeem Zahid, John Peter, Ali Ghazanfar, Chishti Muhammad Salman, Ahmad Wasim

Abstract excerpt

BACKGROUND: Autosomal Recessive Primary Microcephaly (MCPH) is a disorder of neurogenic mitosis. MCPH leads to reduced cerebral cortical volume and hence, reduced head circumference associated with mental retardation of variable degree. Genetic heterogeneity is well documented in patients with MCPH with six loci known, while pathogenic sequence variants in four respective genes have been identified so far....

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Identifiers

PMID: 17764569
DOI: 10.1186/1471-2350-8-58
PMCID: PMC2072945

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