Venöz malformasyonlar sendromu

Kalıtsal - AD

Deri ve mukozalarda venöz malformasyonlar

Çenelerde deformasyon

Mukozalardan kanamalar

GİS kanamaları

 

• Gallione CJ, Pasyk KA, Boon LM, et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. Journal of Medical Genetics, 32: 197-199, 1995

• Limaye N, Wouters V, Uebelhoer M, et al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nature Genetics, 41: 118-124, 2009

• Wouters V, Limaye N, Uebelhoer M, et al. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. European Journal of Human Genetics, 18: 414-420, 2010

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