Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

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 mutation...

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Detalles Bibliográficos
Autores principales: Hes, Frederik J, Weiss, Marjan M, Woortman, Sanne A, de Miranda, Noel F, van Bunderen, Patrick A, Bonsing, Bert A, Stokkel, Marcel PM, Morreau, Hans, Romijn, Johannes A, Jansen, Jeroen C, Vriends, Annette HJT, Bayley, Jean-Pierre L, Corssmit, Eleonora PM
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2891715/
https://www.ncbi.nlm.nih.gov/pubmed/20540712
http://dx.doi.org/10.1186/1471-2350-11-92

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