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Article

Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.

The Journal of investigative dermatology - 1 Jun 2024

Langbroek Ginger Beau, Stor Merel L E, Janssen Vera, de Haan Annett, Horbach Sophie E R, Graupera Mariona, van Noesel Carel J M, van der Horst Chantal M A M, Wolkerstorfer Albert, Huveneers Stephan

Abstract excerpt

Capillary malformations (CM) (port-wine stains) are congenital skin lesions that are characterized by dilated capillaries and postcapillary venules. CMs are caused by altered functioning of the vascular endothelium. Somatic genetic mutations have predominantly been identified in the endothelial cells of CMs, providing an opportunity for the development of targeted therapies. However, there is currently limited...

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PMID: 38013159
DOI: 10.1016/j.jid.2023.10.033

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