The molecular pathophysiology of vascular anomalies: Genomic research

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.

Standort
Deutsche Nationalbibliothek Frankfurt am Main
Umfang
Online-Ressource
Sprache
Englisch

Erschienen in
The molecular pathophysiology of vascular anomalies: Genomic research ; volume:47 ; number:03 ; year:2020 ; pages:203-208
Archives of Plastic Surgery ; 47, Heft 03 (2020), 203-208

Beteiligte Personen und Organisationen
Kim, Jong Seong
Hwang, Su-Kyeong
Chung, Ho Yun

DOI
10.5999/aps.2020.00591
URN
urn:nbn:de:101:1-2022050512385137086014
Rechteinformation
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Letzte Aktualisierung
15.08.2025, 07:31 MESZ

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Beteiligte

  • Kim, Jong Seong
  • Hwang, Su-Kyeong
  • Chung, Ho Yun

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