Associated Papers
Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.
Pithadia DJ et al.
Blood Vessels, Thrombosis & Hemostasis, 2026
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
Ghasemi R et al.
Clinical Genetics, 2025
Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.
Shewmake CN et al.
The American Surgeon, 2023
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J et al.
The Journal of Investigative Dermatology, 2017
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