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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Case Rep Endocrinol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi 2019
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6855059/
https://ncbi.nlm.nih.gov/pubmed/31781416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/2502174
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