Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

Although it is well established that paternally transmitted germline variants in SDHD are associated with multifocal paragangliomas and lifelong follow-up is generally advised, the risk of metachronous lesions is presently unknown. In a large Dutch cohort of SDHD variant carriers, we studied the dev...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Heesterman, Berdine L, de Pont, Lisa M H, van der Mey, Andel GL, Bayley, Jean-Pierre, Corssmit, Eleonora PM, Hes, Frederik J, Verbist, Berit M, van Benthem, Peter Paul G, Jansen, Jeroen C
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117364/
https://ncbi.nlm.nih.gov/pubmed/29777207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0116-4
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