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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Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Leppävirta, Jussi, Kallionpää, Roope A., Uusitalo, Elina, Vahlberg, Tero, Pöyhönen, Minna, Peltonen, Juha, Peltonen, Sirkku
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
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Research
Online Access: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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