Updates in Genetic Testing for Head and Neck Vascular Anomalies - 17/11/23
Doi : 10.1016/j.coms.2023.09.001
Kristina M. Woodis, BS a, Luciana Daniela Garlisi Torales, MD a, Alejandro Wolf, DO b, Allison Britt, MS, LCGC c, Sarah E. Sheppard, MD, PhD a, ⁎ 
a Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA
b Department of Pathology and ARUP Laboratories, University of Utah, 2000 Circle of Hope, Room 3100, Salt Lake City, UT 84112, USA
c Comprehensive Vascular Anomalies Program, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
∗Corresponding author. 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103.10 Center Drive, MSC 1103BethesdaMD20892-1103
Résumé |
Vascular anomalies include benign or malignant tumors or benign malformations of the arteries, veins, capillaries, or lymphatic vasculature. The genetic etiology of the lesion is essential to define the lesion and can help navigate choice of therapy. . In the United States, about 1.2% of the population has a vascular anomaly, which may be underestimating the true prevalence as genetic testing for these conditions continues to evolve.
Le texte complet de cet article est disponible en PDF.Keywords : Vascular malformation, Vascular anomaly, Genetics, PI3K signaling, RAS-MAPK signaling, Somatic mosaicism
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Elsevier Inc. Tous droits réservés.
Vol 36 - N° 1
P. 1-17 - février 2024 Retour au numéro
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