A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot
نویسندگان
چکیده
منابع مشابه
A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot.
Congenital heart disease (CHD), the most common type of developmental abnormality, is associated with substantial morbidity and mortality in humans worldwide. The basic helix-loop-helix transcription factor, heart and neural crest derivatives expressed 2 (HAND2), has been demonstrated to be crucial for normal cardiovascular development in animal models. However, whether a genetically defective ...
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Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects have been recognized as the predominant causes of CHD. Nevertheless, CHD is of substantial genetic heterogeneity and the genetic defects underlying CHD in most cases remain unclear. In the current study, the coding regions a...
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Tetraology of Fallot (TOF) is the most common form of cyanotic congenital heart disease and is a major cause of significant morbidity and mortality. Emerging evidence demonstrates that genetic risk factors are involved in the pathogenesis of TOF. However, TOF is genetically heterogeneous and the genetic defects responsible for TOF remain largely unclear. In the present study, the whole coding r...
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ژورنال
عنوان ژورنال: International Journal of Molecular Medicine
سال: 2015
ISSN: 1107-3756,1791-244X
DOI: 10.3892/ijmm.2015.2436