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  1. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... disease TGFBR2 Nonsyndromic heritable thoracic aortic disease Differential Diagnosis Marfan Syndrome and Shprintzen-Goldberg Syndrome FBN1 -related Marfan syndrome ...
  2. Marfan syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/marfan-syndrome
    ... on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with ... Canadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May;7(5):256- ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with ... html:p >Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. ...
  4. FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... that of the general population. Diagnosis/testing. The diagnosis of Marfan syndrome is established in a proband (by definition a ... Therapy is generally initiated at the time of diagnosis with Marfan syndrome at any age or upon appreciation of progressive ...
  5. Marfan Syndrome 
    https://medlineplus.gov/marfansyndrome.html
    ... syndrome is a disorder that affects connective tissue. Marfan syndrome can be mild to severe. Read about symptoms and outlook. ... problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often ...
  6. NLM Digital Collections - Aneurysms 
    https://resource.nlm.nih.gov/101662437X837
    ... 338-9. : i . Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and manage- ment. N Engl J Med 1979; ... lesion. REFERENCES 1. Pyeritz RE, McKusick VA. The Marfan syndrome: Diagnosis and management. N Engl J Med 1979;300: ...
  7. NLM Digital Collections - 
    https://resource.nlm.nih.gov/101662437X516
    ... Pyeritz, R. E,, and McKusick, V.A.: The Marfan Syndrome: Diagnosis and Management, N. Engl. J. Med., 300:772, ... with AFT Ejection Patient Age/Sex AFT Cardiac Diagnosis Fraction 1 34/F Continuous Marfans syndrome 0.37 2 25/F Paroxysmal Rheumatic heart ...
  8. NLM Digital Collections - 
    https://resource.nlm.nih.gov/101662437X518
    ... 109:820. 1986. Pyeritz RE, McKusick VA: The Marfan syndrome: diagnosis and management. N Engl | Med 300:772, 1979. Roberts WC, Honig HS: The spectrum of cardiovascular disease in the Marfan syndrome. Am Heart | 104:115, 1982. Crawford ES: ...
  9. FBN1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fbn1
    ... and instability of tissues and the signs and symptoms of Marfan syndrome. More About This Health Condition Weill-Marchesani syndrome ...
  10. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... in the majority of individuals with a clinical diagnosis of Marfan syndrome or Loeys-Dietz syndrome. However, a genetic cause ...
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