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Prenatal diagnostic conundrum involving a novel ATP7A duplication.

作者信息

Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler S G

出版信息

Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14.

Abstract
摘要

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本文引用的文献

1
Incidental copy-number variants identified by routine genome testing in a clinical population.
Genet Med. 2013 Jan;15(1):45-54. doi: 10.1038/gim.2012.95. Epub 2012 Aug 9.
2
Genomics and perinatal care.
N Engl J Med. 2012 Jan 5;366(1):64-73. doi: 10.1056/NEJMra1105043.
3
Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
Orphanet J Rare Dis. 2011 Nov 10;6:73. doi: 10.1186/1750-1172-6-73.
4
ATP7A-related copper transport diseases-emerging concepts and future trends.
Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180.
5
Twenty-five novel mutations including duplications in the ATP7A gene.
Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.
6
Copy number variants, diseases and gene expression.
Hum Mol Genet. 2009 Apr 15;18(R1):R1-8. doi: 10.1093/hmg/ddp011.
7
Neonatal diagnosis and treatment of Menkes disease.
N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.

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