Questionable pathogenicity of FOXG1 duplication.
作者信息
Amor David J, Burgess Trent, Tan Tiong Y, Pertile Mark D
出版信息
Eur J Hum Genet. 2012 Jun;20(6):595-6; author reply 596-7. doi: 10.1038/ejhg.2011.267. Epub 2012 Jan 18.
Abstract
摘要
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West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
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2
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3
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Eur J Hum Genet. 2011 Jan;19(1):102-7. doi: 10.1038/ejhg.2010.142. Epub 2010 Aug 25.
4
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
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5
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.
6
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Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19.
7
Multiplex ligation-dependent probe amplification using a completely synthetic probe set.
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8
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