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Article

Paraganglioma and pheochromocytoma upon maternal transmission of SDHDmutations

9 Oct 2014

Abstract excerpt

BACKGROUND: The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocytomas attributable to paternally-transmitted mutations. METHODS: Here we explore the underlying...

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PMID: 25300370
DOI: 10.1186/s12881-014-0111-8

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