Article
Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jul 2024
Stor M L E, Horbach S E R, Lokhorst M M, Tan E, Maas S M, van Noesel C J M, van der Horst C M A M
Abstract excerpt
Vascular malformations (VMs) are clinically diverse with regard to the vessel type, anatomical location, tissue involvement and size. Consequently, symptoms and disease impact differ significantly. Diverse causative mutations in more and more genes are discovered and play a major role in the development of VMs. However, the relationship between the underlying causative mutations and the highly variable phenotype...
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