Article
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
Nature genetics - 1 Jan 2009
Limaye Nisha, Wouters Vinciane, Uebelhoer Melanie, Tuominen Marjut, Wirkkala Riikka, Mulliken John B, Eklund Lauri, Boon Laurence M, Vikkula Miikka
Abstract excerpt
Germline substitutions in the endothelial cell tyrosine kinase receptor TIE2 (encoded by TEK) cause a rare, inherited form of venous anomaly known as a mucocutaneous venous malformation (VMCM; refs. 1, 2, 3 and V.W., N.L., M.U., A. Irrthum, L.M.B. et al., unpublished data). We identified a somatic 'second hit' causing loss of function of TIE2 in a resected VMCM and assessed whether such localized, tissue-specific...
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