잠시만 기다려 주세요. 로딩중입니다.

The molecular pathophysiology of vascular anomalies: Genomic research

Archives of Plastic Surgery 2020년 47권 3호 p.203 ~ 208
김종성, 황수경, 정호윤,
소속 상세정보
김종성 ( Kim Jong-Seong ) - Kyungpook National University School of Medicine Department of Plastic and Reconstructive Surgery
황수경 ( Hwang Su-Kyeong ) - Kyungpook National University School of Medicine Department of Pediatrics
정호윤 ( Chung Ho-Yun ) - Kyungpook National University School of Medicine Department of Plastic and Reconstructive Surgery

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.

키워드

Vascular anomalies; Genomic research; DNA sequencing; Next generation sequencing; Signaling pathway

원문 및 링크아웃 정보

 

등재저널 정보