Article
Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.
Pediatric blood & cancer - 1 Mar 2010
Majumdar Suvankar, Friedrich Christopher A, Koch Christian A, Megason Gail C, Fratkin Jonathan D, Moll George W
Abstract excerpt
Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumors in children. Apparently sporadic cases of PGL may harbor germline mutations in the succinate dehydrogenase (SDHx) gene. SDHB mutations are associated with malignant disease. We report a 13-year-old African American boy with d...
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