Article
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
The Journal of investigative dermatology - 1 Apr 2018
Siegel Dawn H, Cottrell Catherine E, Streicher Jenna L, Schilter Kala F, Basel Donald G, Baselga Eulalia, Burrows Patricia E, Ciliberto Heather M, Vigh-Conrad Katinka A, Eichenfield Lawrence F, Holland Kristen E, Hogeling Marcia, Jensen John N, Kelly Michael E, Kim Wendy, King David M, McCuaig Catherine, Mueller Katherine A, Pope Elena, Powell Julie, Price Harper, Steiner Jack E, Frieden Ilona J, Tollefson Megha M, Drolet Beth A
Abstract excerpt
Vascular anomalies are variably associated with overgrowth, skeletal anomalies, and abnormalities of the brain, leptomeninges, and eye. We assembled a 16-institution network to determine the range of genetic variants associated with a spectrum of vascular anomalies with overgrowth, ranging from mild to severe. Because of the overlap between cancer-associated variants and previously described somatic variants in...
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