The molecular pathophysiology of vascular anomalies: Genomic research

Author:

Kim Jong SeongORCID,Hwang Su-KyeongORCID,Chung Ho YunORCID

Abstract

Vascular anomalies are congenital localized abnormalities that result from improper development and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the phenotype, and the current treatment options are often unsatisfactory. Most vascular anomalies are sporadic, but patterns of inheritance have been noted in some cases, making genetic analysis relevant. Developments in the field of genomics, including next-generation sequencing, have provided novel insights into the genetic and molecular pathophysiological mechanisms underlying vascular anomalies. These insights may pave the way for new approaches to molecular diagnosis and potential disease-specific therapies. This article provides an introduction to genetic testing for vascular anomalies and presents a brief summary of the etiology and genetics of vascular anomalies.

Funder

National Research Foundation of Korea

Korea government

Publisher

Korean Society of Plastic and Reconstructive Surgeons

Subject

Surgery

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