Reports a novel SDHB mutation site associated with Carney-Stratakis Syndrome.
Carney-Stratakis Syndrome (CSS), first described in 2002 [1], encompasses Gastrointestinal Stromal Tumors (GISTs) and Paragangliomas (PGLs) and has autosomal dominant inheritance with incomplete penetrance [2]. Germline mutations of Succinate Dehydrogenase (SDH) complex subunits and consequent SDH functional deficiency have been identified as responsible for CSS [3]. Here, we present a case with a new mutation site in SDHB that has not yet been reported.
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Chen et al. (2023) studied this question.
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