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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 ...
Marfan syndrome is a genetic condition. It occurs because of a mutation (change) in one of your genes that develops before you’re born. It’s a type of connective tissue disorder, meaning it affects ...
The mutation of TGFBR1 was previously observed ... who directs Johns Hopkins' research on Marfan syndrome, a genetic disorder similar to Loeys-Dietz syndrome. Marfan syndrome's features were ...
Marfan syndrome can be difficult to spot ... They're a spontaneous mutation." Along with a dilated aortic root (enlarged aorta) or narrow dissection (tear in an artery), patients also run the ...
Marfan syndrome affects approximately one in 5,000 people worldwide and is often caused by a mutation in the FBN1 gene. Nearly all patients experience aortic root enlargement, which increases the ...
Alternatively, in approximately 25-30% of those with Marfan syndrome the condition has developed due to a spontaneous mutation yielding the defective gene. Marfan syndrome affects the body’s ...
Marfan syndrome is an inherited condition that afflicts ... In about 15 percent of the cases, neither parent has the abnormal gene; rather, a mutation–or change in a gene–occurs when the ...
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