Article
Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
The Journal of clinical endocrinology and metabolism - 1 Mar 2014
Bickmann Julia K, Sollfrank Stefanie, Schad Arno, Musholt Thomas J, Springer Erik, Miederer Matthias, Bartsch Oliver, Papaspyrou Konstantinos, Koutsimpelas Dimitrios, Mann Wolf J, Weber Matthias M, Lackner Karl J, Rossmann Heidi, Fottner Christian
Abstract excerpt
CONTEXT: Mutations in the four subunits of succinate dehydrogenase (SDH) are the cause for the hereditary paraganglioma (PGL) syndrome types 1-4 and are associated with multiple and recurrent pheochromocytomas and PGLs. SDHC mutations most frequently result in benign, nonfunctional head-and neck PGLs (HNPGLs). The malignant potential of SDHC mutations remains unclear to date. OBJECTIVES: We report a patient with...
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