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Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20–30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeo...
Autores principales: | Fernández-Pombo, Antía, Cameselle-Teijeiro, José M., Puñal-Rodríguez, Jose A., Loidi, Lourdes, Peinó-García, Roberto, Cabanas-Rodríguez, Paloma, Garrido-Pumar, Miguel, Baleato-González, Sandra, Flores-Ríos, Enrique, Araújo-Vilar, David |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855059/ https://www.ncbi.nlm.nih.gov/pubmed/31781416 http://dx.doi.org/10.1155/2019/2502174 |
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