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Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

BACKGROUND: Neurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors, individuals with NF1 often exhibit endocrine abnormalities such as precocious puberty (2,5–5% of NF1 patients) and some cases of hypertension (1...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Kobus, Karolina, Hartl, Daniela, Ott, Claus Eric, Osswald, Monika, Huebner, Angela, von der Hagen, Maja, Emmerich, Denise, Kühnisch, Jirko, Morreau, Hans, Hes, Frederik J., Mautner, Victor F., Harder, Anja, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361563/
https://ncbi.nlm.nih.gov/pubmed/25775093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0119030
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