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261 results
  1. Marfan Syndrome 
    https://medlineplus.gov/marfansyndrome.html
    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. Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... Search term GeneReviews Advanced Search Help < Prev Next > Marfan Syndrome Harry Dietz , MD. Author Information Harry Dietz , MD ... shows aortic root dilation (Z-score ≥3). Potential Marfan syndrome. If an FBN1 pathogenic variant that has not ...
  3. Marfan syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/marfan-syndrome
    ... syndrome. Learn more about the gene associated with Marfan syndrome FBN1 Inheritance This condition is inherited in an ...
  4. Marfan syndrome 
    https://medlineplus.gov/ency/article/000418.htm
    Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders ... Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role ...
  5. Marfan syndrome (image) 
    https://medlineplus.gov/ency/imagepages/9611.htm
    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. FBN1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fbn1
    ... 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 ...
  7. Easy-to-Read Health Information 
    https://medlineplus.gov/all_easytoread.html
    ... Library of Medicine) - PDF Also in Spanish M Marfan Syndrome What Is Marfan Syndrome? (National Institute of Arthritis and Musculoskeletal and Skin ...
  8. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... first in individuals with milder phenotypes. A multigene Marfan syndrome / Loeys-Dietz syndrome / familial thoracic aortic aneurysms and ... from the aortic root) than that observed in Marfan syndrome . Mean age at death is 26 years [ Loeys ...
  9. Glossary | Victor A. McKusick - Profiles in Science 
    https://profiles.nlm.nih.gov/spotlight/jq/feature/glossary
    ... 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. xmlmplus_topics_2024-05-04.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-04.xml
    ... a>, <a href="https://medlineplus.gov/marfansyndrome.html">Marfan syndrome</a>, and <a href="https://medlineplus.gov/osteogenesisimperfecta. ... topic><related-topic >Lupus</related-topic><related-topic >Marfan ... >Osteogenesis Imperfecta</related-topic>< ...
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