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Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway

BACKGROUND: Fibro-adipose vascular anomaly (FAVA) is a new entity of vascular anomalies with somatic and mosaic gain-of-function mutations of the phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA). PIK3CA mutation excessively activates mammalian target of rapamycin (mTO...

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Detalles Bibliográficos
Autores principales: Hori, Yumiko, Hirose, Katsutoshi, Aramaki-Hattori, Noriko, Suzuki, Sachi, Nakayama, Robert, Inoue, Masanori, Matsui, Takahiro, Kohara, Masaharu, Toyosawa, Satoru, Morii, Eiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382067/
https://www.ncbi.nlm.nih.gov/pubmed/32711543
http://dx.doi.org/10.1186/s13000-020-01004-z