Somatic Mutations in the Angiopoietin-Receptor TIE2 Can Cause Both Solitary and Multiple Sporadic Venous Malformations

Germline substitutions in the endothelial cell tyrosine kinase receptor TIE2/TEK cause a rare inherited form of venous anomalies, mucocutaneous venous malformations (VMCM)1-4. We now identified a somatic 2(nd) hit causing loss-of-function of the receptor in a resected VMCM. We assessed for whether s...

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Detalles Bibliográficos
Autores principales: Limaye, Nisha, Wouters, Vinciane, Uebelhoer, Melanie, Tuominen, Marjut, Wirkkala, Riikka, Mulliken, John B., Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Formato: Texto
Lenguaje:English
Publicado: 2008
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670982/
https://www.ncbi.nlm.nih.gov/pubmed/19079259
http://dx.doi.org/10.1038/ng.272

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