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    Glossary Marfan syndrome

    genetic disorder affecting connective tissue, often causing long limbs

    Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support, strength, and elasticity to other tissues and organs. It is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. People with Marfan syndrome often have long limbs, fingers, and toes, and may experience cardiovascular issues, such as aortic enlargement, as well as eye problems like lens dislocation.

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      research Repurposing of approved cardiovascular drugs

      73 citations , September 2016 in “Journal of Translational Medicine”
      This review discusses the drug repurposing of cardiovascular medications like aspirin and statins for new uses, including potential anti-tumor effects, noting promising experimental outcomes but less conclusive clinical trials, particularly in the field of cancer treatment.

      research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

      43 citations , April 2010 in “Clinical genetics”
      This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.