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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.
PMID: 12843329 [PubMed - indexed for MEDLINE]
PMCID: PMC1735531
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Cited by 4 PubMed Central articles
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W.
BMC Med Genet. 2007 Sep 1; 8:58. Epub 2007 Sep 1.
[BMC Med Genet. 2007]
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ReviewAutosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
Woods CG, Bond J, Enard W.
Am J Hum Genet. 2005 May; 76(5):717-28. Epub 2005 Mar 31.
[Am J Hum Genet. 2005]
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Mutations in microcephalin cause aberrant regulation of chromosome condensation.
Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, et al.
Am J Hum Genet. 2004 Aug; 75(2):261-6. Epub 2004 Jun 15.
[Am J Hum Genet. 2004]
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