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

Abstract 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 rapamy...

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Principais autores: Yumiko Hori, Katsutoshi Hirose, Noriko Aramaki-Hattori, Sachi Suzuki, Robert Nakayama, Masanori Inoue, Takahiro Matsui, Masaharu Kohara, Satoru Toyosawa, Eiichi Morii
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2020-07-01
Serier:Diagnostic Pathology
Fag:
Fibro-adipose vascular anomaly (FAVA)
PIK3CA
mTOR
Vascular anomaly
Online adgang:http://link.springer.com/article/10.1186/s13000-020-01004-z
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