Article
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
The Journal of clinical endocrinology and metabolism - 1 Apr 2012
Schiavi Francesca, Demattè Serena, Cecchini Maria Enrica, Taschin Elisa, Bobisse Sara, Del Piano Antonella, Donner Davide, Barbareschi Mattia, Manera Vittorio, Zovato Stefania, Erlic Zoran, Savvoukidis Theodoros, Barollo Susi, Grego Franco, Trabalzini Franco, Amistà Pietro, Grandi Cesare, Branz Fabio, Marroni Fabio, Neumann Hartmut P H, Opocher Giuseppe
Abstract excerpt
CONTEXT: Anecdotal evidence suggests a high incidence in Trentino, Italy, of head and neck paragangliomas (HNPGL), a rare autosomal dominant disease called paraganglioma type 1 syndrome and caused by germ-line mutations of the SDHD gene. OBJECTIVE: The aim of this study was to investigate the ori...
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