Article
Rebalancing gene haploinsufficiency in vivo by targeting chromatin.
Nature communications - 3 Jun 2016
Fulcoli Filomena Gabriella, Franzese Monica, Liu Xiangyang, Zhang Zhen, Angelini Claudia, Baldini Antonio
Abstract excerpt
Congenital heart disease (CHD) affects eight out of 1,000 live births and is a major social and health-care burden. A common genetic cause of CHD is the 22q11.2 deletion, which is the basis of the homonymous deletion syndrome (22q11.2DS), also known as DiGeorge syndrome. Most of its clinical spectrum is caused by haploinsufficiency of Tbx1, a gene encoding a T-box transcription factor. Here we show that Tbx1...
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