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T1  - Congenital anomalies in neurofibromatosis 1 : a retrospective register-based total population study 
SN  -  /  
UR  - http://hdl.handle.net/10138/231822 
T3  -  
A1  - Leppävirta, Jussi; Kallionpaa, Roope A.; Uusitalo, Elina; Vahlberg, Tero; Pöyhönen, Minna; Peltonen, Juha; Peltonen, Sirkku 
A2  -  
PB  -  
Y1  - 2018 
LA  - eng 
AB  - 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 retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. Methods: One thousand four hundred ten patients with NF1 were identified by searching th... 
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KW  - Neurofibromatosis type 1; Congenital malformation; Birth defect; Rasopathy; Anomaly; Heart; Kidney; Epidemiology; Face; Polydactyly; TYPE-1 NF1; ABNORMALITIES; MALFORMATIONS; EPIDEMIOLOGY; RASOPATHIES; PREVALENCE; MANAGEMENT; MORTALITY; CHILDREN; FINLAND; 3111 Biomedicine; 1184 Genetics, developmental biology, physiology 
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ER  -