Related Resources
The Role of Genetic Testing in the Diagnosis of Marfan Syndrome
For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in […]
MASS Phenotype
MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome in that people with the condition have the similar Mitral valve, Aorta, Skin, and Skeletal features. People with MASS phenotype do not have lens dislocation, but rather myopia (nearsightedness), and do not show progressive and dangerous aortic root enlargement, hallmark features of Marfan syndrome. What other […]
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