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203 results
  1. Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... syndrome. Other allelic disorders not in the differential diagnosis of Marfan syndrome Autosomal dominant Weill-Marchesani syndrome , including ectopia lentis ...
  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. Hypermobile Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1279
    ... Specific clinical criteria are available to establish a diagnosis of Marfan syndrome, and it can be confirmed by demonstration of ... Ehlers-Danlos Syndrome Byers PH. GeneReviews®. 1993 Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome. [Gastroenterol Res Pract. ...
  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. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... with HTAD who do not have a clinical diagnosis of Marfan syndrome or another syndrome have a causative pathogenic variant ... who had TAAD and did not meet clinical diagnosis criteria for Marfan syndrome, vascular Ehlers-Danlos syndrome, or Loeys-Dietz syndrome. ...
  7. 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 ...
  8. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... keletal findings that overlap with those seen in Marfan syndrome. One is most confident in this diagnosis when concordant manifestations are seen in multiple generations ...
  9. xmlmplus_topics_2024-05-03.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-03.xml
    ... the fibrillin gene causes Marfan syndrome. </p> <p>Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often ...
  10. Shprintzen-Goldberg syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome
    ... inguinal hernia). Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome . ...
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