Article
A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.
Journal of clinical laboratory analysis - 1 Apr 2020
Kalayinia Samira, Maleki Majid, Mahdavi Mohammad, Mahdieh Nejat
Abstract excerpt
BACKGROUND: Congenital heart disease (CHD) is the most common birth defect which can arises from different genetic defects. The genetic heterogeneity of this disease leads to restricted success in candidate genes screening method. Emerging approaches such as next-generation sequencing (NGS)-based genetic analysis might provide a better understating of CHD etiology in the patients who are left undiagnosed. To this...
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