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Chiari Malformation Type 1 in EPAS1-Associated Syndrome

A syndrome of multiple paragangliomas/pheochromocytomas, somatostatinoma, and polycythemia due to somatic mosaic gain-of-function mutation of EPAS1, encoding HIF-2α, was previously described. HIF-2α has been implicated in endochondral and intramembranous ossification. Abnormal bone growth of the sku...

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Detalles Bibliográficos
Autores principales:	Rosenblum, Jared S., Maggio, Dominic, Pang, Ying, Nazari, Matthew A., Gonzales, Melissa K., Lechan, Ronald M., Smirniotopoulos, James G., Zhuang, Zhengping, Pacak, Karel, Heiss, John D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6600383/ https://www.ncbi.nlm.nih.gov/pubmed/31185588 http://dx.doi.org/10.3390/ijms20112819

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