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Results 1 - 6 of 6 for 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;15(2):177-84. doi: 10.1038/nm.1911. Epub 2009 Jan 18. Citation on PubMed or Free ... cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005 Sep 1;14( ...
    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. CCBE1 gene 
    ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. ... for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular ...
    https://medlineplus.gov/genetics/gene/ccbe1 - Genetics