Article
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.
BMC medical genetics - 11 Jun 2010
Hes Frederik J, Weiss Marjan M, Woortman Sanne A, de Miranda Noel F, van Bunderen Patrick A, Bonsing Bert A, Stokkel Marcel P M, Morreau Hans, Romijn Johannes A, Jansen Jeroen C, Vriends Annette H J T, Bayley Jean-Pierre L, Corssmit Eleonora P M
Abstract excerpt
BACKGROUND: Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the phenotype and penetrance of a germline SDHB mutati...
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