008 Congenital anomalies in neurofibromatosis 1: A retrospective register-based total population study
نویسندگان
چکیده
منابع مشابه
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 retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 we...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.104