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Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was to provide estimates of penetrance and genotype–phenotype correlations in a large cohort of succinate...
The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D SDHD), we investigated this gene in kindreds with familial phaeochromocytoma. A germline SDHD frame shift mutation was identified in a two-generation...
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