Article
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.
Clinical endocrinology - 1 Nov 2011
Hensen E F, Siemers M D, Jansen J C, Corssmit E P M, Romijn J A, Tops C M J, van der Mey A G L, Devilee P, Cornelisse C J, Bayley J P, Vriends A H J T
Abstract excerpt
OBJECTIVE: Head and neck paragangliomas (HNPGL) are associated with mutations in genes encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate SDH mutations, family history and phenotypes of patients with HNPGL in the Netherlands. DESIGN: We evaluated the clinical data and the mutation status of 236 patients referred between 1950 and 2009 to Leiden University Medical Center....
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