Marfan syndrome is a genetic condition involving the body's connective tissue. Connective tissue gives structure and support to all parts of the body, including the skin, bones, blood vessels, and ...
b Department of Pediatrics and Munroe Center for Human Genetics, University of Nebraska Medical Center, 600 S 42nd Street, Omaha, NE 68198-5430, USA Mutations in the gene for fibrillin-1 (FBN1) have ...
Marfan syndrome (MFS) is a heritable multisystemic disorder with a spectrum of clinical manifestations primarily linked to variants in the Fibrillin-1 (FBN1) gene. Over the past two decades, advances ...
who directs Johns Hopkins' research on Marfan syndrome, a genetic disorder similar to Loeys-Dietz syndrome. Marfan syndrome's features were systematically described by the late Victor McKusick ...
Marfan syndrome is a genetic condition that affects connective tissue. Connective tissue provides structure and support for organs, blood vessel, bone, joint, and muscle in the body. Marfan syndrome ...
Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents ...
Other times, they are in the family’s genes and can be passed down to children. Pediatric cardiologist Kathryn Holmes is an expert in Marfan syndrome, a genetic disorder that carries a risk of ...
Marfan syndrome is an autosomal dominant disorder associated with changes in the FBN1 gene and is one of a group of disorders where changes in genes encoding proteins essential for elastic fibres ...
Marfan syndrome affects approximately 200,000 people in the United States. Marfan syndrome is caused by a genetic mutation. The disorder is usually inherited, but spontaneous cases occur. Having a ...
Marfan syndrome is a genetic disorder that affects the connective tissue, including the major blood vessels and the heart valves. In Marfan syndrome, the connective tissue is not normal. As a result, ...
They include cardiologist Kathryn Holmes (left) and genetic counselor Jessica Kushner (right). Her blond hair and colorful glasses are easy to spot as she pops into cafes with her mom. She loves to ...