Article
Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Sept 2004
Fischer Andreas, Klamt Barbara, Schumacher Nina, Glaeser Christiane, Hansmann Ingo, Fenge Hartmut, Gessler Manfred
Abstract excerpt
The genetic alterations leading to congenital heart defects (CHD) are still poorly understood. We and others have recently shown that in mice loss of Hey2 results in a high incidence of fatal ventricular and atrial septal defects, combined with tricuspid stenosis or atresia in some cases. The phenotype has been postulated to resemble human tetralogy of Fallot. Our analysis of CD1 outbred mice suggests that...
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