Abstract

Carney-Stratakis syndrome, defined as the “dyad” of extra-adrenal paraganglioma and gastrointestinal stromal tumor (GIST), is caused by germline mutations in one of the succinate dehydrogenase (SDH) complex subunit genes (SDHB, SDHC, or SDHD). Herein we report the first documented mutation of SDHA in a patient with Carney-Stratakis syndrome. The …

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