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The American College of Medical Genetics has a medical genetics database you can use to find a knowledgeable geneticist in your area. Helpful search terms include: connective tissue, bone/skeletal disorders, cardiovascular/connective tissue, adult congenital heart disease, adult medical genetics, pediatric genetics, and genetics counseling.
Findings in an FBN1 screening that should be considered causal in making the diagnosis of Marfan syndrome.
Important information on differential diagnosis and related disorders.
An overview of all genetic aorta conditions, their symptom overlaps with Marfan syndrome, discriminating features, and genes.
The diagnosis of Marfan syndrome relies on a set of defined clinical criteria (the Ghent nosology) developed to facilitate accurate recognition of the syndrome and improve patient management and counseling.
Prepare for Victory: Virtual Medical Symposium Series is a webinar series that will arm you with the latest diagnosis and treatment information from the experts.
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