Article
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
The Journal of clinical endocrinology and metabolism - 1 Mar 2006
Benn Diana E, Gimenez-Roqueplo Anne-Paule, Reilly Jennifer R, Bertherat Jérôme, Burgess John, Byth Karen, Croxson Michael, Dahia Patricia L M, Elston Marianne, Gimm Oliver, Henley David, Herman Philippe, Murday Victoria, Niccoli-Sire Patricia, Pasieka Janice L, Rohmer Vincent, Tucker Kathy, Jeunemaitre Xavier, Marsh Deborah J, Plouin Pierre-François, Robinson Bruce G
Abstract excerpt
CONTEXT: The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated clear elucidation of genotype-phenotype associations. OBJECTIVE: Our objective was to determine genotype-phenotype associations in a cohort of patients with pheochromocytoma/paraganglioma syndromes and succinate dehydrogenase subunit B (SDHB) or subunit...
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