Article
Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas.
The Journal of clinical endocrinology and metabolism - 1 Feb 2016
Richter Susan, Klink Barbara, Nacke Brit, de Cubas Aguirre A, Mangelis Anastasios, Rapizzi Elena, Meinhardt Matthias, Skondra Christina, Mannelli Massimo, Robledo Mercedes, Menschikowski Mario, Eisenhofer Graeme
Abstract excerpt
CONTEXT: Mutational inactivation of the succinate dehydrogenase (SDH) complex is a well-described cause of tumor development in pheochromocytomas/paragangliomas (PPGLs) and gastrointestinal stromal tumors (GISTs). Epigenetic inactivation of the SDHC gene is a more recently discovered phenomenon, which so far has only been described in GISTs and PPGLs from patients with Carney triad syndrome. CASE DESCRIPTION: A...
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