Updates in Genetic Testing for Head and Neck Vascular Anomalies

Kristina M. Woodis, Luciana Daniela Garlisi Torales, Alejandro Wolf,Allison Britt,Sarah E. Sheppard

ORAL AND MAXILLOFACIAL SURGERY CLINICS OF NORTH AMERICA(2024)

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摘要
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.
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关键词
Vascular malformation,Vascular anomaly,Genetics,PI3K signaling,RAS-MAPK signaling,Somatic mosaicism
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