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10 de oct. de 2016 · FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.
- FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf
FBN1-related Marfan syndrome (Marfan syndrome), a systemic...
- Marfan Syndrome - Causes | NHLBI, NIH
Marfan syndrome is a condition you are born with. It is...
- FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf
10 de oct. de 2016 · FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.
18 de abr. de 2001 · FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue, is part of a broad phenotypic continuum associated with heterozygous FBN1 pathogenic variants that ranges from mild (features of Marfan syndrome in one or a few systems) to severe (rapidly progressive multiorgan disease in neonates).
2 de sept. de 2021 · Marfan syndrome (MFS) is a genetic disorder affecting the connective tissue, caused by mutations in FBN1 (which encodes fibrillin-1, a structural component of the extracellular matrix ...
27 de may. de 2021 · Marfan syndrome (MFS), a complicated genetic connective tissue disorder named after Antoine-Bernard Marfan in 1896, presents with striking pleiotropism and clinical variability. Patients with MFS exhibit a wide range of clinical symptoms, including abnormalities in the ocular, skeletal and cardiovascular systems.
30 de may. de 2017 · Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns.
24 de mar. de 2022 · Marfan syndrome is a condition you are born with. It is caused by a mutation , or change, in a gene , called the fibrillin-1 (FBN1) gene. The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue to support your bones, muscles, and organs.
