A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death

BACKGROUND: Mutations in transcription factor NKX2.5 cause congenital heart disease (CHD). We identified a CHD family with atrial septal defects (ASDs), atrioventricular block, ventricular noncompaction, syncope and sudden death. Our objective is to identify the disease-causing mutation in the CHD f...

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Hlavní autoři: Ouyang, Ping, Saarel, Elizabeth, Bai, Ying, Luo, Chunyan, Lv, Qiulun, Xu, Yan, Wang, Fan, Fan, Chun, Younoszai, Adel, Chen, Qiuyun, Tu, Xin, Wang, Qing K.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2998397/
https://ncbi.nlm.nih.gov/pubmed/20932824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2010.09.035
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