Article
Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.
Human genetics - 1 Sept 2015
Theis Jeanne L, Hrstka Sybil C L, Evans Jared M, O'Byrne Megan M, de Andrade Mariza, O'Leary Patrick W, Nelson Timothy J, Olson Timothy M
Abstract excerpt
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) that necessitates staged, single ventricle surgical palliation. An increased frequency of bicuspid aortic valve (BAV) has been observed among relatives. We postulated number of mutant alleles as a molecular basis for variable CHD expression in an extended family comprised of an HLHS proband and four family members who underwent...
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