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Results 1 - 9 of 9 for Aortic "aneurysm," familial thoracic 4
  1. Familial thoracic aortic aneurysm and dissection 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1 AORTIC ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  2. TGFBR2 gene 
    ... transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005 Jul 26;112(4):513-20. doi: 10.1161/CIRCULATIONAHA.105.537340. ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  3. TGFB2 gene 
    ... mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat ... type 4 in a family with mild vascular involvement and a TGFB2 splicing ...
    https://medlineplus.gov/genetics/gene/tgfb2 - Genetics
  4. ACTA2 gene 
    ... gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). This disorder involves problems with the aorta, ...
    https://medlineplus.gov/genetics/gene/acta2 - Genetics
  5. TGFBR1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health Condition MedlinePlus ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
  6. FBN1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health Condition MedlinePlus ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  7. NOTCH1 gene 
    ... NOTCH1 gene mutations appear to be involved in 4 to 10 percent of bicuspid ... the aorta (thoracic aortic aneurysm) or a sudden tearing of the layers in ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  8. Loeys-Dietz syndrome 
    ... with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected ... Loeys-Dietz syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  9. SMAD4 gene 
    ... the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life-threatening. Impaired functioning of the mitral valve, which connects two of the four chambers of the heart, has also been seen ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics