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- Title
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
- Authors
Neumann, Hartmut P H; Pawlu, Christian; Peczkowska, Mariola; Bausch, Birke; McWhinney, Sarah R; Muresan, Mihaela; Buchta, Mary; Franke, Gerlind; Klisch, Joachim; Bley, Thorsten A; Hoegerle, Stefan; Boedeker, Carsten C; Opocher, Giuseppe; Schipper, Jörg; Januszewicz, Andrzej; Eng, Charis; European-American Paraganglioma Study Group
- Abstract
Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively. In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are unknown.
- Publication
JAMA, 2004, Vol 292, Issue 8, p943
- ISSN
1538-3598
- Publication type
Journal Article
- DOI
10.1001/jama.292.8.943