New gene linked to congenital heart defects

Researchers from the UC San Diego School of Medicine and colleagues have identified a new gene, ETS-1, that is linked to human congenital heart defects. The landmark study, recently published online in the journal of Human Molecular Genetics, provides important insights into some of the most prevalent forms of congenital heart defects in humans, including ventricular septal defects and potentially hypoplastic left heart syndrome, a uniformly fatal heart abnormality. Continue reading New gene linked to congenital heart defects

(837)

Missed diagnosis: 22q11.2 deletion syndrome

Neuroscience provides one of the first comprehensive overviews of the genetic, neural and cognitive bases of a frequently undiagnosed congenital disorder with an array of complex genetic, medical, neurological, behavioral and psychiatric features: the often baffling chromosome 22q11.2 deletion syndrome (22q11.2DS). Continue reading Missed diagnosis: 22q11.2 deletion syndrome

(957)