Article
No difference in phenotype of the main Dutch SDHD founder mutations.
Clinical endocrinology - 1 Dec 2013
van Hulsteijn L T, den Dulk A C, Hes F J, Bayley J P, Jansen J C, Corssmit E P M
Abstract excerpt
OBJECTIVE: SDHD mutations predispose carriers to hereditary paraganglioma syndrome. The objective of this study was to assess the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluate potential differences in clinical phenotypes due to specific SDHD gene mutations. DESIGN: Retrospective, descriptive single-centre study. PATIENTS: All consecutive SDHD mutation carriers...
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