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SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

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1 papers 0 to 25 followers
By P O Pediatrics, Nephrology
https://www.readbyqxmd.com/read/25215250/pheochromocytoma-in-a-twelve-year-old-girl-with-sdhb-related-hereditary-paraganglioma-pheochromocytoma-syndrome
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Daryl Graham, Megan Gooch, Zhan Ye, Edward Richer, Aftab Chishti, Elizabeth Reilly, John D'Orazio
A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an abdominal CT scan confirmed the presence of a pheochromocytoma. The patient was found to have a mutation in the succinyl dehydrogenase B (SDHB) gene, which is causative for SDHB-related hereditary paraganglioma-pheochromocytoma syndrome...
2014: Case Reports in Genetics
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