Article
Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.
American journal of medical genetics. Part A - 1 Nov 2025
Torales Luciana Daniela Garlisi, Woodis Kristina, Britt Allison, Surrey Lea F, Srinivasan Abhay, Ganguly Arupa, Limmina Maria, Li Dong, MacFarland Suzanne P, Adams Denise M, Sheppard Sarah E
Abstract excerpt
Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis. Genetic testing can help clinicians differentiate these two vascular anomalies to provide proper treatment for...
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