Do regulatory regions matter in FOXG1 duplications?
作者信息
Falace Antonio, Vanni Nicola, Mallamaci Antonello, Striano Pasquale, Zara Federico
出版信息
Eur J Hum Genet. 2013 Apr;21(4):365-6. doi: 10.1038/ejhg.2012.142. Epub 2012 Jul 4.
Abstract
摘要
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本文引用的文献
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Questionable pathogenicity of FOXG1 duplication.
Eur J Hum Genet. 2012 Jun;20(6):595-6; author reply 596-7. doi: 10.1038/ejhg.2011.267. Epub 2012 Jan 18.
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West syndrome associated with 14q12 duplications harboring FOXG1.
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
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