A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans. The research group, headed by Dr. Lukas Sommer at the Swiss Federal ...

The discovery of a 'switch' that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome.

Researchers have found that mitochondrial dysfunction in the blood-brain barrier (BBB) may lead to neuropsychiatric disease in some patients with DiGeorge syndrome. The researchers also demonstrated ...

The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain. Genes provide the blueprint for construction, but ...