Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and t...

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Bibliographic Details
Main Authors: Benjamin Chevalier, Hippolyte Dupuis, Arnaud Jannin, Madleen Lemaitre, Christine Do Cao, Catherine Cardot-Bauters, Stéphanie Espiard, Marie Christine Vantyghem
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Endocrinology
Subjects:
neurofibromatosis type 1
von Hippel-Lindau
Cowden syndrome
tuberous sclerosis complex
pheochromocytoma
paraganglioma
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.678869/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.678869/full

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