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. The ...

Over the next several weeks, we're going to take a closer look at some cardiovascular disorders that primarily affect children. This informative article from heart.org examines DiGeorge syndrome: ...

Loss of function of the CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome, a multinational team of scientists led by Columbia University Medical Center (CUMC) has ...

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 ...

Could diagnosing rare genetic disorders one day be as simple as snapping a picture with a smartphone? That’s what a new study suggests. Researchers with the National Institutes of Health’s National ...

Q: Which doctor should I consult for DiGeorge syndrome? A: The neonatologist attending to your baby will identify the syndrome soon after birth. If diagnosis is not possible immediately, then consult ...

(CBS News) It's hard to remember an entire dance routine, but one special girl has committed the entire lead ballet role in Coppelia to memory. Clara Bergs's parents wrote that they thought their ...

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.

Variations in the severity of birth defects in children with DiGeorge syndrome may be explained by the existence a 'switch' that modifies a gene Variations in the severity of birth defects in children ...