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SUN-330 Non-Mosaic Somatic HIF2A Mutations Associated with Late-Onset Polycythemia-Paraganglioma Syndrome: Newly Recognized Subclass of Polycythemia-Paraganglioma Syndrome
Background: Somatic mutations in hypoxia-inducible factor 2α (HIF2A) is associated with polycythemia-paraganglioma syndrome. Specifically, the classic presentation of female patients with recurrent paragangliomas (PGLs), polycythemia (at birth or in early childhood), and duodenal somatostatinomas ha...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrine Society
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553219/ http://dx.doi.org/10.1210/js.2019-SUN-330 |