Neurofibromatosis type 1 is an autosomal dominant disorder associated with benign and occasionally malignant nerve tumours. NF1 is caused by a gene mutation on chromosome 17 which encodes neurofibromin. NF1 is associated with optic nerve tumours, neurofibromas, freckling of the groin and axilla, cafe au lait spots, skeletal abnormalities and lisch nodules in the iris.
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