Article
Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2010
Santiago Angela H, Campbell Brendan T, Estrada D Elizabeth
Abstract excerpt
Paragangliomas are extradadrenal neuroendocrine tumors, recently associated with gene mutations in the succinate dehydrogenase complex (SDH). These mutations are thought to be responsible for the familial paraganglioma syndrome. Average age of tumor diagnosis for SDH mutation carriers is about 30 years of age, but patients younger than 10 years have been reported. We present the case of a 13 year-old boy with...
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