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Prevalence, birth incidence, and penetrance of von Hippel–Lindau disease (vHL) in Denmark

Von Hippel–Lindau disease (vHL) is a rare hereditary tumour predisposition with multiorgan involvement that is not always easily recognized. The disease is reported to be almost fully penetrant at age 60 years. Previous estimates of vHL prevalence and incidence are all regional and vary widely. Most...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Binderup, Marie Louise Mølgaard, Galanakis, Michael, Budtz-Jørgensen, Esben, Kosteljanetz, Michael, Luise Bisgaard, Marie
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5315510/
https://ncbi.nlm.nih.gov/pubmed/27966541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.173
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