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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...
Guardat en:
| Publicat a: | Orphanet J Rare Dis |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2018
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| Matèries: | |
| Accés en línia: | 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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