Article
Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2014
Raygada Margarita, King Kathryn S, Adams Karen T, Stratakis Constantine A, Pacak Karel
Abstract excerpt
The discovery that mutations in the succinate dehydrogenase (SDH) complex subunit (SDHA, B/C/D/AF2) genes predispose patients to the development of tumors has led to the identification of a large population of patients and relatives at risk for developing malignancies. The most frequent conditions associated with these mutations are the familial paraganglioma syndromes. Other tumors that are frequently associated...
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