Archives of Plastic Surgery

Korean Society of Plastic and Reconstructive Surgeons (대한성형외과학회)
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The molecular pathophysiology of vascular anomalies: Genomic research

  • Kim, Jong Seong (Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University) ;
  • Hwang, Su-Kyeong (Department of Pediatrics, School of Medicine, Kyungpook National University) ;
  • Chung, Ho Yun (Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University)
  • Received : 2020.04.06
  • Accepted : 2020.04.30
  • Published : 2020.05.15
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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.

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References

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