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329 results
  1. Marfan syndrome is a disorder that affects connective tissue. Marfan syndrome can be mild to severe. Read about symptoms ... Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ...
  2. ... GeneReviews Advanced Search Help < Prev Next > FBN1 -Related Marfan Syndrome Harry Dietz , MD. Author Information and Affiliations Harry ... shows aortic root dilatation (z score ≥3). Potential Marfan syndrome. If an FBN1 pathogenic variant that has not ...
  3. ... syndrome. Learn more about the gene associated with Marfan syndrome FBN1 Inheritance This condition is inherited in an ...
  4. Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders ... Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role ...
  5. Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...
  6. ... TGFBR2 Nonsyndromic heritable thoracic aortic disease Differential Diagnosis Marfan Syndrome and Shprintzen-Goldberg Syndrome FBN1 -related Marfan syndrome ...
  7. ... to Marfan syndrome. More About This Health Condition Marfan syndrome Researchers have identified more than 1,300 FBN1 gene mutations that cause Marfan syndrome, a disorder that affects the connective tissue supporting ...
  8. ... Library of Medicine) - PDF Also in Spanish M Marfan Syndrome What Is Marfan Syndrome? (National Institute of Arthritis and Musculoskeletal and Skin ...
  9. ... in linkage units or physical units, between them. Marfan syndrome -- A hereditary disorder of connective tissue that is ... effects of a defective connective tissue gene in Marfan syndrome. Polyp -- A projecting mass of swollen and hypertrophied ...
  10. ... syndrome associated with thoracic aortic disease (e.g., Marfan syndrome , Loeys-Dietz syndrome ). A genetic cause of HTAD ... majority of individuals with a clinical diagnosis of Marfan syndrome or Loeys-Dietz syndrome. However, a genetic cause ...
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