Related Experiment Video
Updated: Mar 15, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Genetic basis for vascular anomalies.
A Yasmine Kirkorian1, Anna L Grossberg2, Katherine B Püttgen3
1George Washington University School of Medicine and Health Sciences, Division of Dermatology, Children's National Health System, Washington, DC, USA.
Genetic discoveries are rapidly advancing the understanding of vascular anomalies and related syndromes. This review details the genetics and clinical features of numerous vascular malformations and associated conditions.
Area of Science:
- Genetics
- Molecular Biology
- Dermatology
Background:
- Vascular anomalies encompass a wide range of conditions affecting blood vessels.
- Understanding the genetic basis of these anomalies is crucial for diagnosis and treatment.
- Recent advancements have significantly increased the discovery rate of underlying genetic factors.
Purpose of the Study:
- To review and synthesize current genetic and clinical information on various vascular anomalies and syndromes.
- To provide a comprehensive overview of the molecular pathways involved in these conditions.
- To serve as a resource for researchers and clinicians in the field.
Main Methods:
- Literature review of genetic and clinical studies.
- Compilation of data on specific vascular malformations and syndromes.
- Analysis of interconnected molecular pathways.
Main Results:
- Elucidation of fundamental genetics for many isolated vascular anomalies.
- Identification of increasing numbers of genetic discoveries.
- Expansion of knowledge on interconnected molecular pathways.
Conclusions:
- Genetic research has significantly advanced the understanding of vascular anomalies.
- Continued discovery is refining our knowledge of these complex conditions.
- This review consolidates key information on numerous vascular anomalies and associated syndromes.
Related Concept Videos
Overview of the Vascular System
Regulation of Angiogenesis and Blood Supply
Mechanism of Angiogenesis
Development of Blood Vessels
The initial formation of this system is facilitated by the small amount of yolk present in the ovum and yolk sac. Blood vessels originate from...
Principles of Pharmacogenetics: Types of Genetic Variants
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...

