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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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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| 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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