Article
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
American journal of human genetics - 1 Jan 2004
Vanharanta Sakari, Buchta Mary, McWhinney Sarah R, Virta Sanna K, Peçzkowska Mariola, Morrison Carl D, Lehtonen Rainer, Januszewicz Andrzej, Järvinen Heikki, Juhola Matti, Mecklin Jukka-Pekka, Pukkala Eero, Herva Riitta, Kiuru Maija, Nupponen Nina N, Aaltonen Lauri A, Neumann Hartmut P H, Eng Charis
Abstract excerpt
Hereditary paraganglioma syndrome has recently been shown to be caused by germline heterozygous mutations in three (SDHB, SDHC, and SDHD) of the four genes that encode mitochondrial succinate dehydrogenase. Extraparaganglial component neoplasias have never been previously documented. In a population-based registry of symptomatic presentations of phaeochromocytoma/paraganglioma comprising 352 registrants, among...
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