Case Reports
doi: 10.1038/ejhg.2010.149.
Epub 2010 Sep 1.
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
- PMID: 20808325
- PMCID: PMC3039513
- DOI: 10.1038/ejhg.2010.149
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Case Reports
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
Eur J Hum Genet.
2011 Jan.
No abstract available
Figures
Duplication of Xp11.3 in a male patient with mental retardation and epilepsy. Three genes are located in the duplicated region: MAOA, MAOB, and NDP. The duplication was verified by qPCR with amplicons in all three genes.
Comment on
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Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.Eur J Hum Genet. 2010 Oct;18(10):1095-9. doi: 10.1038/ejhg.2010.41. Epub 2010 May 19. Eur J Hum Genet. 2010. PMID: 20485326 Free PMC article.
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