The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

Germline mutations in SDHD predispose to the development of head and neck paragangliomas, and phaeochromocytomas. The risk of developing a tumor depends on the sex of the parent who transmits the mutation: paragangliomas only arise upon paternal transmission. In this study, both the risk of paragang...

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Autors principals: Hensen, Erik F, Jansen, Jeroen C, Siemers, Maaike D, Oosterwijk, Jan C, Vriends, Annette HJT, Corssmit, Eleonora PM, Bayley, Jean-Pierre, van der Mey, Andel GL, Cornelisse, Cees J, Devilee, Peter
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987152/
https://ncbi.nlm.nih.gov/pubmed/19584903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.112
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