Article
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
European journal of human genetics : EJHG - 1 Apr 2013
Heesterman Berdine L, Bayley Jean Pierre, Tops Carli M, Hes Frederik J, van Brussel Bernadette T J, Corssmit Eleonora P M, Hamming Jaap F, van der Mey Andel G L, Jansen Jeroen C
Abstract excerpt
Hereditary paraganglioma is a benign tumor syndrome with an age-dependent penetrance. Carriers of germline mutations in the SDHB or SDHD genes may develop parasympathetic paragangliomas in the head and neck region or sympathetic catecholamine-secreting abdominal and thoracic paragangliomas (pheochromocytomas). In this study, we aimed to establish paraganglioma risk in 101 asymptomatic germline mutation carriers...
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