Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma

Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or paraganglioma (PGL). As assembly factors have been identified as playing a role in maturation of individual SDH subunits and assembly of the functioning SDH complex, we hypothesized that SDHAF3 variants may be associated with PC/PGL and functionality of SDH. | Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma

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