Encuentre un doctor que esté familiarizado con el síndrome de Marfan. El síndrome de Marfan es raro y no todos los doctores lo conocen. Necesita buscar un doctor que conozca el el Sindrome de Marfan y que sepa ver la diferencia entre el Sindrome de Marfan y otros trastornos médicos que aparentan ser iguales.
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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 […]
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