NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

In Neurofibromatosis type 1, NF1 gene mutations in Schwann cells (SC) drive benign plexiform neurofibroma (PNF), and no additional SC changes explain patient-to-patient variability in tumor number. Evidence from twin studies suggests that variable expressivity might be caused by unidentified modifie...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol
Main Authors: Yu, Yanan, Choi, Kwangmin, Wu, Jianqiang, Andreassen, Paul R., Dexheimer, Philip, Keddache, Mehdi, Brems, Hilde, Spinner, Robert J., Cancelas, Jose A., Martin, Lisa J., Wallace, Margaret R., Legius, Eric, Vogel, Kristine S., Ratner, Nancy
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7243727/
https://ncbi.nlm.nih.gov/pubmed/31664505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-019-02086-w
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