Chiari Malformation Type 1 in <i>EPAS1</i>-Associated Syndrome

Chiari Malformation Type 1 in <i>EPAS1</i>-Associated Syndrome

A syndrome of multiple paragangliomas/pheochromocytomas, somatostatinoma, and polycythemia due to somatic mosaic gain-of-function mutation of <i>EPAS1</i>, encoding HIF-2&#945;, was previously described. HIF-2&#945; has been implicated in endochondral and intramembranous ossifica...

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Bibliographic Details
Main Authors: Jared S. Rosenblum, Dominic Maggio, Ying Pang, Matthew A. Nazari, Melissa K. Gonzales, Ronald M. Lechan, James G. Smirniotopoulos, Zhengping Zhuang, Karel Pacak, John D. Heiss
Format: Article
Language:English
Published: MDPI AG 2019-06-01
Series:International Journal of Molecular Sciences
Subjects:
Chiari malformation type I
Pacak-Zhuang syndrome
EPAS1
HIF-2α
Online Access:https://www.mdpi.com/1422-0067/20/11/2819

Internet

https://www.mdpi.com/1422-0067/20/11/2819

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