Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working Group

Abstract excerpt

Somatic overgrowth and vascular anomalies are often present at birth but may only be clinically recognized later in life. Affected tissues commonly include veins and arteries, skin, adipose tissue, bone, and brain, resulting in a broad phenotypic spectrum encompassing vascular malformations, lipomatous and melanocytic nevus syndromes, skeletal abnormalities, and brain malformations. These conditions are typically...

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