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Results 1 - 10 of 24 for vascular malformation OR hemoarthrosis OR hemophilia OR "pseudo-aneurysm"
Did you mean vascular malformation OR hemarthrosis OR hemophilia OR "pseudo-aneurysm"?
  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. STAMBP gene 
    ... disability, recurrent seizures (epilepsy), and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).The known STAMBP gene mutations reduce or eliminate ...
    https://medlineplus.gov/genetics/gene/stambp - Genetics
  5. CCM2 gene 
    ... have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone ... 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
  6. KRIT1 gene 
    ... have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone ... Shenkar R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins ... Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207( ...
    https://medlineplus.gov/genetics/gene/krit1 - Genetics
  7. PDCD10 gene 
    ... have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone ... with CCM2 indicating common pathogenesis for cerebral cavernous malformations. Neurogenetics. 2007 ... Epub 2007 Jul 27. Citation on PubMed
    https://medlineplus.gov/genetics/gene/pdcd10 - Genetics
  8. ACVRL1 gene 
    ... This genetic variation may affect the development of blood vessels in the brain, resulting in an increased risk of arteriovenous malformations. activin A receptor type II-like 1 activin ...
    https://medlineplus.gov/genetics/gene/acvrl1 - Genetics
  9. SMAD4 gene 
    ... hereditary hemorrhagic telangiectasia, a disorder characterized by certain ... arteriovenous malformations. When they occur in vessels near the surface ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  10. DLL4 gene 
    ... blood vessels before birth and growth of new blood vessels (angiogenesis) throughout life. ... congenita), usually on the scalp, and malformations of the hands and feet. Some of these ...
    https://medlineplus.gov/genetics/gene/dll4 - Genetics
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