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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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Publicado en:BMC Med Genet
Autores principales: 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
Lenguaje:Inglês
Publicado: BioMed Central 2014
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Acceso en línea: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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