TY - JOUR AU - Hes, Frederik J. AU - Weiss, Marjan M. AU - Woortman, Sanne A. AU - de Miranda, Noel F. AU - van Bunderen, Patrick A. AU - Bonsing, Bert A. AU - Stokkel, Marcel PM AU - Morreau, Hans AU - Romijn, Johannes A. AU - Jansen, Jeroen C. AU - Vriends, Annette HJT AU - Bayley, Jean-Pierre L. AU - Corssmit, Eleonora PM PY - 2010 DA - 2010/06/11 TI - Low penetrance of a SDHB mutation in a large Dutch paraganglioma family JO - BMC Medical Genetics SP - 92 VL - 11 IS - 1 AB - 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 mutation in a large and clinically well-characterized paraganglioma family. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-11-92 DO - 10.1186/1471-2350-11-92 ID - Hes2010 ER -