Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations

BACKGROUND: The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliom...

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書誌詳細
出版年:BMC Med Genet
主要な著者: Bayley, Jean-Pierre, Oldenburg, Rogier A, Nuk, Jennifer, Hoekstra, Attje S, van der Meer, Conny A, Korpershoek, Esther, McGillivray, Barbara, Corssmit, Eleonora PM, Dinjens, Winand NM, de Krijger, Ronald R, Devilee, Peter, Jansen, Jeroen C, Hes, Frederik J
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259087/
https://ncbi.nlm.nih.gov/pubmed/25300370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0111-8
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