ODP051 Presymptomatic Genetic Screening Leading to the Diagnosis of Paraganglioma Associated with Duodenal and Pancreatic Neuroendocrine Tumours in a Carrier of a Pathogenic MAX Variant

INTRODUCTION: MAXpathogenic variants have been found to predispose to pheochromocytomas and paragangliomas (PPGLs) and more recently to pituitary tumors 1. CLINICAL CASE: A 30 yo man presented to the emergency department for diplopia and high blood pressure (200/100mmHg). His workup showed elevated...

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Detalles Bibliográficos
Autores principales: Salle, Stefanie Parisien-La, Mercier, Frédéric, Corbeil, Gilles, Dumas, Nadine, Vandenbroucke-Menu, Franck, Widmer, Hugues, Nguyen, Bich Ngoc, Latour, Mathieu, Bourdeau, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625830/
http://dx.doi.org/10.1210/jendso/bvac150.130

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