Neurofibromatosis type 1: update on a common genetic condition.
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.
Siqveland
Elizabeth
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Pond
Dinel
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D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008910:Minnesota; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D025542:Neurofibromin 1 / Q000235:genetics
D025542:Neurofibromin 1