Article
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
Human molecular genetics - 17 Dec 2021
Bell Lorenz M, Holm Annegret, Matysiak Uta, Driever Wolfgang, Rößler Jochen, Schanze Denny, Wieland Ilse, Niemeyer Charlotte M, Zenker Martin, Kapp Friedrich G
Abstract excerpt
Vascular malformations are most often caused by somatic mutations of the PI3K/mTOR and the RAS signaling pathways, which can be identified in the affected tissue. Venous malformations (VMs) commonly harbor PIK3CA and TEK mutations, whereas arteriovenous malformations (AVMs) are usually caused by BRAF, RAS or MAP2K1 mutations. Correct identification of the underlying mutation is of increasing importance, since...
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