Article
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.
The Journal of clinical endocrinology and metabolism - 1 Mar 2007
Timmers Henri J L M, Kozupa Anna, Eisenhofer Graeme, Raygada Margarita, Adams Karen T, Solis Daniel, Lenders Jacques W M, Pacak Karel
Abstract excerpt
CONTEXT: Mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition of the SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening. OBJECTIVE: The objective of the study was to assess mutation-specific clinical and biochemical characteristics of SDHB-related PGL. DESIGN: The study design was retrospective...
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