Phenotype of SDHB mutation carriers in the Netherlands

@article{Hulsteijn2014PhenotypeOS,
  title={Phenotype of SDHB mutation carriers in the Netherlands},
  author={Leonie T. van Hulsteijn and Nienke D. Niemeijer and Frederik J Hes and J. Stuart Bayley and Carli M. J. Tops and Jeroen C. Jansen and Eleonora P. M. Corssmit},
  journal={Familial Cancer},
  year={2014},
  volume={13},
  pages={651-657}
}
SDHB mutation carriers are predisposed to developing paragangliomas (PGLs). The objective of this study was to assess genotype–phenotype correlations of a Dutch cohort of SDHB mutation carriers and assess potential differences in clinical phenotypes related to specific SDHB founder mutations. Forty-seven consecutive SDHB mutation carriers were included. Initial screening consisted of measurement of 24 h urinary excretion of catecholamines and their metabolites in duplicate, repeated annually if… CONTINUE READING

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