Article
Phenotype of SDHB mutation carriers in the Netherlands.
Familial cancer - 1 Dec 2014
van Hulsteijn Leonie T, Niemeijer Nienke D, Hes Frederik J, Bayley Jean-Pierre, Tops Carli M, Jansen Jeroen C, Corssmit Eleonora P M
Abstract excerpt
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...
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