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

Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen and Sirkku Peltonen

Orphanet Journal of Rare Diseases 2018 13:5

Abstract published on January 15, 2018 



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 retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated.

URL: https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0756-4