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Results 1 - 9 of 9 for telangiectasia OR vascular malformation
  1. PIK3CA gene 
    ... hyperplasia; and a condition called congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal abnormalities (CLOVES) ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  2. TEK gene 
    ... ClinVar Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec ... germline towards somatic mutations in the pathophysiology of vascular ... and multiple sporadic venous malformations. Nat Genet. 2009 Jan;41(1):118-24. ...
    https://medlineplus.gov/genetics/gene/tek - Genetics
  3. RASA1 gene 
    ... RASA1 gene mutations, affected individuals usually have multiple vascular abnormalities known as capillary malformations. Parkes Weber syndrome is also characterized by other ...
    https://medlineplus.gov/genetics/gene/rasa1 - Genetics
  4. CCM2 gene 
    ... DA, Davis GE, Li DY. The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nat Med. 2009 Feb; ...
    https://medlineplus.gov/genetics/gene/ccm2 - Genetics
  5. KRIT1 gene 
    ... Shenkar R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207( ...
    https://medlineplus.gov/genetics/gene/krit1 - Genetics
  6. ACVRL1 gene 
    ... appear more often in people who develop arteriovenous malformations in the brain, but who do not have other signs or symptoms of hereditary hemorrhagic telangiectasia, than in the general population. The polymorphism replaces ...
    https://medlineplus.gov/genetics/gene/acvrl1 - Genetics
  7. SMAD4 gene 
    ... found to cause a form of hereditary hemorrhagic telangiectasia, a disorder ... arteriovenous malformations. When they occur in vessels near the surface ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  8. ENG gene 
    ... and ENG are associated with sporadic brain arteriovenous malformations. ... telangiectasia: deficient endoglin up-regulation in activated monocytes. Clin ...
    https://medlineplus.gov/genetics/gene/eng - Genetics
  9. CCBE1 gene 
    ... Merker S. CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo. Circ Res. ...
    https://medlineplus.gov/genetics/gene/ccbe1 - Genetics