CLINICAL AND MUTATIONAL ANALYSIS OF A COHORT OF PORTUGUESE PATIENTS WITH PARAGANGLIOMAS OF THE CAROTID BODY
Roger Rodrigues, Maria R. Almeida, João Carreiro, António Assunção, Sandrina Braga, Joel Sousa, Nelson Camacho, Pedro Garrido, Miguel Maia, José Gimenez, José França, Gabriel Anacleto & Óscar Gonçalves
Introduction: Representing 0.03% of all tumors, paragangliomas (PGLs) are extremely rare. During the past 15 years, there has been a significant progress in the knowledge of the genetics of PGLs. Germline mutations in succinate dehy- drogenase (SDH) genes are the commonest genetic cause of PGL. Objective: Given the high clinical relevance of the SDH status, we aimed to evaluate the diagnostic and prognostic value of SDH mutations in a Portuguese cohort with carotid body paragangliomas....
This data repository is not currently reporting usage information. For information on how your repository can submit usage information, please see
our documentation.