Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

2016/08/09 by Julie Soblet, Jaakko Kangas, J. Kangas +35 · 25 citations
Medicine · #Vascular Malformations and Hemangiomas #Vascular Tumors and Angiosarcomas #Tumors and Oncological Cases

paper · doi:10.1016/j.jid.2016.07.034

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• Vascular Anomalies: From a Clinicohistologic to a Genetic Framework. [europepmc]
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• Vascular anomalies: special considerations in children. [europepmc]
• Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations. [europepmc]
• A Primer on a Comprehensive Genetic Approach to Vascular Anomalies. [europepmc]
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• Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update. [europepmc]
• Maternal sirolimus therapy and fetal growth restriction. [europepmc]
• Blue rubber bleb nevus syndrome: a single-center case series in 12 years. [europepmc]
• Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study. [europepmc]
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• The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms. [europepmc]
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• Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2 L914F mutation in endothelial cells. [europepmc]
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