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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Detalles Bibliográficos
Autores principales: Leppävirta, Jussi, Kallionpää, Roope A., Uusitalo, Elina, Vahlberg, Tero, Pöyhönen, Minna, Peltonen, Juha, Peltonen, Sirkku
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769274/
https://www.ncbi.nlm.nih.gov/pubmed/29335026
http://dx.doi.org/10.1186/s13023-017-0756-4

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