Article
Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.
Clinics (Sao Paulo, Brazil) - 1 Jan 2012
Lendvai Nikoletta, Tóth Miklos, Valkusz Zsuzsanna, Bekő Gabriella, Szücs Nikolette, Csajbók Eva, Igaz Péter, Kriszt Balázs, Kovács Balázs, Rácz Károly, Patócs Attila
Abstract excerpt
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations of multiple endocrine neoplasia type 2 caused by...
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