Holt-Oram: when the key to a broken heart is in the hand.
作者信息
Naderi Negar, McCurdy Michael Thomas, Reed Robert Michael
机构信息
Department of Pulmonary and Critical Care Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
出版信息
BMJ Case Rep. 2014 Apr 10;2014:bcr2014203851. doi: 10.1136/bcr-2014-203851.
Abstract
摘要
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TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.TBX5 基因内重复：一个具有非典型 Holt-Oram 综合征表型的家系。
Eur J Hum Genet. 2012 Aug;20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15.
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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.由霍尔特-奥拉姆综合征突变定义的心脏和肢体中不同的TBX5相互作用。
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