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Results 1 - 10 of 16 for angiokeratomas OR vascular malformation
  1. Parkes Weber syndrome 
    ... Babyn PS, Wang Q, John P. Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children. Semin Musculoskelet ...
    https://medlineplus.gov/genetics/condition/parkes-weber-syndrome - Genetics
  2. 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
  3. Multiple cutaneous and mucosal venous malformations 
    ... PubMed Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec ... Warman ML, Cantley LC, Mulliken JB, Olsen BR. Vascular dysmorphogenesis caused by an activating mutation in the ... Citation on PubMed
    https://medlineplus.gov/...utaneous-and-mucosal-venous-malformations - Genetics
  4. 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
  5. Capillary malformation-arteriovenous malformation syndrome 
    ... However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  6. 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
  7. 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
  8. Cerebral cavernous malformation 
    ... 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/.../cerebral-cavernous-malformation - Genetics
  9. 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
  10. Caudal regression syndrome 
    ... S, Siemer S, Gortner L. Caudal regression sequence: vascular origin? J Perinatol. 2006 Jul;26(7):445- ...
    https://medlineplus.gov/.../condition/caudal-regression-syndrome - Genetics
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