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Neurofibromatosis type 1: update on a common genetic condition.
Minnesota Medicine 2009 March
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition affecting the skin, peripheral nervous system, and skeletal system. Half of all cases are inherited from a parent. The disease, which often manifests in childhood, affects an estimated 1 in 3,000 people, making it likely that physicians in Minnesota will encounter a patient with NF1.This article describes the diagnostic criteria for NF1 and the use of genetic testing for diagnosis; it also includes information about resources for diagnosing and treating children with the condition.
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