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Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma



Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma



Journal of Clinical Endocrinology and Metabolism 89(11): 5694-5699



More than 30% of adrenal pheochromocytomas are hereditary. These neuroendocrine tumors are major components of three inherited cancer syndromes: multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and pheochromocytoma/ paraganglioma syndrome (PC/PGL). Germline mutations in RET; VHL; and SDHB, SDHC, and SDHD are associated with multiple endocrine neoplasia type 2, VHL, and PC/PGL, respectively.

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Accession: 012256045

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PMID: 15531530

DOI: 10.1210/jc.2004-0769


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