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Results 21 - 30 of 31 for Arterial disorder
  1. COL1A1 gene 
    ... mutation are prone to tearing (rupture) of major arteries in adulthood. The vascular type is associated with ... Health Condition Osteogenesis imperfecta is the most common disorder caused by mutations in the COL1A1 gene. People ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  2. ABCG8 gene 
    ... body. These fatty substances build up in the arteries, skin, and other tissues, resulting in clogged blood ... levels, and sterol elimination: implications for classification and disease risk. J Lipid Res. 2011 Nov;52(11): ...
    https://medlineplus.gov/genetics/gene/abcg8 - Genetics
  3. NOTCH1 gene 
    ... of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural ... TAN-1 Tests of NOTCH1 PubMed AORTIC VALVE DISEASE 1; AOVD1 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL NOTCH RECEPTOR ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  4. EFEMP2 gene 
    ... mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. ... Central Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med. 2006 Aug 8;8( ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  5. SMAD3 gene 
    ... aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011 Sep 2;109(6): ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  6. TBX1 gene 
    ... and bones of the face and neck, large arteries that carry blood out of the heart, structures ... EA, Brook JD. T-box genes in human disorders. Hum Mol Genet. 2003 Apr 1;12 Spec ...
    https://medlineplus.gov/genetics/gene/tbx1 - Genetics
  7. YY1AP1 gene 
    ... how these changes cause narrowing and blockage of arteries. It is also unknown how YY1AP1 gene mutations ... Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet. 2017 Jan 5;100( ...
    https://medlineplus.gov/genetics/gene/yy1ap1 - Genetics
  8. RASA1 gene 
    ... vascular system, which is the complex network of arteries, veins, and capillaries that carry blood to and ... malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/rasa1 - Genetics
  9. SOS1 gene 
    ... E, Leonardi B, Pongiglione G, Digilio MC. Coronary artery ectasia in Noonan syndrome: Report of an individual ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  10. RAF1 gene 
    ... Manning MA, Benitz W, Hudgins L. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with ... analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
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