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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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| Publicat a: | Int J Mol Sci |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6600383/ https://ncbi.nlm.nih.gov/pubmed/31185588 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20112819 |
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