Molecular genetics of congenital heart disease and Holt-Oram Syndrome
Granados, Javier Tadeo (2006) Molecular genetics of congenital heart disease and Holt-Oram Syndrome. PhD thesis, University of Nottingham.
Heart development is a complex process which is regulated by molecular mechanisms still largely unknown. Disruptions in these processes cause congenital heart defect, that affects over 1 out of every 100 live births and is responsible for most antenatal losses. In the last few decades, several mutations have been shown to cause isolated as well as syndromic congenital heart defects and the genetic contribution to this pathology now is being recognized as important not only for the rare familial cases but also in regard to the much more complex multifactorial varieties of the disease.
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