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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Acesso em linha: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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