A Primer on a Comprehensive Genetic Approach to Vascular Anomalies
The field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies...
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Frontiers Media S.A.
2020-10-01
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Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2020.579591/full |
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doaj-bc6ef8da74124387944d1d03e1b795702020-11-25T02:25:56ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602020-10-01810.3389/fped.2020.579591579591A Primer on a Comprehensive Genetic Approach to Vascular AnomaliesAlexandra J. Borst0Taizo A. Nakano1Francine Blei2Denise M. Adams3Jessica Duis4Vascular Anomalies Program, Monroe Carrell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, TN, United StatesVascular Anomalies Center, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, United StatesVascular Anomalies Program, Lenox Hill Hospital, Northwell Health, New York, NY, United StatesVascular Anomalies Center, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United StatesVascular Anomalies Center, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, United StatesThe field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies, patient care, and development of novel therapeutics. The goal of this review is to provide a basic understanding of the classification of vascular anomalies and knowledge of their underlying molecular pathways. Here we provide an organizational framework for phenotype/genotype correlation and subsequent development of a diagnostic and treatment roadmap. With the increasing importance of genetics in the diagnosis and treatment of vascular anomalies, we highlight the importance of clinical geneticists as part of a comprehensive multidisciplinary vascular anomalies team.https://www.frontiersin.org/articles/10.3389/fped.2020.579591/fullvascular malformationsgeneticmutationanomaliessomatic |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Alexandra J. Borst Taizo A. Nakano Francine Blei Denise M. Adams Jessica Duis |
spellingShingle |
Alexandra J. Borst Taizo A. Nakano Francine Blei Denise M. Adams Jessica Duis A Primer on a Comprehensive Genetic Approach to Vascular Anomalies Frontiers in Pediatrics vascular malformations genetic mutation anomalies somatic |
author_facet |
Alexandra J. Borst Taizo A. Nakano Francine Blei Denise M. Adams Jessica Duis |
author_sort |
Alexandra J. Borst |
title |
A Primer on a Comprehensive Genetic Approach to Vascular Anomalies |
title_short |
A Primer on a Comprehensive Genetic Approach to Vascular Anomalies |
title_full |
A Primer on a Comprehensive Genetic Approach to Vascular Anomalies |
title_fullStr |
A Primer on a Comprehensive Genetic Approach to Vascular Anomalies |
title_full_unstemmed |
A Primer on a Comprehensive Genetic Approach to Vascular Anomalies |
title_sort |
primer on a comprehensive genetic approach to vascular anomalies |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Pediatrics |
issn |
2296-2360 |
publishDate |
2020-10-01 |
description |
The field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies, patient care, and development of novel therapeutics. The goal of this review is to provide a basic understanding of the classification of vascular anomalies and knowledge of their underlying molecular pathways. Here we provide an organizational framework for phenotype/genotype correlation and subsequent development of a diagnostic and treatment roadmap. With the increasing importance of genetics in the diagnosis and treatment of vascular anomalies, we highlight the importance of clinical geneticists as part of a comprehensive multidisciplinary vascular anomalies team. |
topic |
vascular malformations genetic mutation anomalies somatic |
url |
https://www.frontiersin.org/articles/10.3389/fped.2020.579591/full |
work_keys_str_mv |
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