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A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.
Borst, Alexandra J; Nakano, Taizo A; Blei, Francine; Adams, Denise M; Duis, Jessica.
Affiliation
  • Borst AJ; Vascular Anomalies Program, Monroe Carrell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, TN, United States.
  • Nakano TA; Vascular Anomalies Center, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, United States.
  • Blei F; Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, New York, NY, United States.
  • Adams DM; Vascular Anomalies Center, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States.
  • Duis J; Vascular Anomalies Center, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, United States.
Front Pediatr ; 8: 579591, 2020.
Article in En | MEDLINE | ID: mdl-33194911
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.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Front Pediatr Year: 2020 Document type: Article Affiliation country: United States Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Front Pediatr Year: 2020 Document type: Article Affiliation country: United States Country of publication: Switzerland