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Molecular Genetics of Vascular Malformations 

Molecular Genetics of Vascular Malformations
Molecular Genetics of Vascular Malformations

Laurence M. Boon

and Miikka Vikkula

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date: 10 April 2020

The new millennium ushered in a revolution in molecular genetics. The decoding of the human genome has enabled novel approaches for unraveling the etiopathogenic mechanisms of human diseases, including vascular malformations. Some vascular lesions are inherited and due to genetic predisposition often involving a “second-hit” mutation. Most vascular malformations are sporadic, likely due to somatic alterations. Knowledge of these germline and somatic genetic mutations has begun to form a picture of the molecular mechanisms that lead to formation of vascular anomalies. This allows murine phenocopies to be generated and permits design and testing of new therapeutic approaches. This chapter summarizes genetic and pathophysiological aspects of pure, combined and syndromic forms of vascular malformations based on the ISSVA classification.

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