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Results 1 - 7 of 7 for Marfan Syndrome type 3
  1. FBN1 gene 
    ... A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  2. Marfan syndrome 
    ... Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009 Jan;123(1):391-8. doi: ... Medical management of Marfan syndrome. Circulation. 2008 May 27;117(21):2802-13. ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  3. Isolated ectopia lentis 
    ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  4. TGFB3 gene 
    ... retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/tgfb3 - Genetics
  5. Shprintzen-Goldberg syndrome 
    ... those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers ( ... has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  6. Congenital contractural arachnodactyly 
    ... Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet. 2004 ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  7. Familial thoracic aortic aneurysm and dissection 
    ... families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics