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

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

Abstract 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 re...

Full description

Bibliographic Details
Main Authors: Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neurofibromatosis type 1
Congenital malformation
Birth defect
Rasopathy
Anomaly
Heart
Online Access:http://link.springer.com/article/10.1186/s13023-017-0756-4

Internet

http://link.springer.com/article/10.1186/s13023-017-0756-4

Similar Items