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Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study

BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospect...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Leppävirta, Jussi, Kallionpää, Roope A., Uusitalo, Elina, Vahlberg, Tero, Pöyhönen, Minna, Peltonen, Juha, Peltonen, Sirkku
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5769274/
https://ncbi.nlm.nih.gov/pubmed/29335026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0756-4
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