Neurofibromatosis Type 1: Piecing the Puzzle Together

Abstract excerpt

Neurofibromatosis type 1 (NF1) was first described in 1882 and is characterized by a diverse spectrum of clinical manifestations, including neurofibromas, café au lait spots, and Lisch nodules. NF1 is also noted for the higher risk of associated malignancies, making it the most common tumour-predisposing disease in humans. Transmitted in an autosomal dominant manner, the NF1 gene was cloned in 1990, and belongs...

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