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pubmed-article:17973943pubmed:abstractTextHereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y. The aim of the study was to investigate which SDHD mutations are associated with malignant PGL.lld:pubmed
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pubmed-article:17973943pubmed:affiliationReproductive Biology and Adult Endocrinology Program, National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA. h.timmers@endo.umcn.nllld:pubmed
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