Marfan syndrome is a genetic connective tissue disease that mainly affects the cardiovascular, skeletal and ocular systems. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1 ...

Marfan syndrome is a genetic connective tissue disease that mainly affects the cardiovascular, skeletal and ocular systems. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1 ...

Marfan syndrome is a genetic connective tissue disease that mainly affects the cardiovascular, skeletal and ocular systems. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1 ...

However, one out of every four people with Marfan syndrome also acquire the condition due to a spontaneous genetic mutation. Genetic test for a mutation in FBN1, the fibrillin-1 gene. Fibrillin is a ...

Marfan syndrome is a genetic connective tissue disease that mainly affects the cardiovascular, skeletal and ocular systems. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1, a ...

If the FBN1 mutation is not unequivocally associated with cardiovascular ... While descending aortic aneurysm or dissection in the absence of aortic root enlargement can occur in Marfan syndrome,17 18 ...

Severe forms such as neonatal Marfan syndrome with <1 year survival usually result from de novo mutations, whereas about 75% of persons with classic Marfan syndrome have a positive family history.

Marfan syndrome affects the body's connective tissue, which provides structural support to organs and tissues. Individuals with the condition often experience issues in the heart, eyes, blood ...

Viruses closely related to the deadly MERS coronavirus are lurking in bats and one group, known as HKU5, may be just one mutation away from making the jump to humans. A new study reveals how these ...