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Neurofibromatosis Type 1 Overview by cornelius is a document available to read on EtoBox.

Neurofibromatosis is a multisystemic genetic disorder that affects neural tissue growth and primarily results from mutations in the NF1 gene. It has a variable clinical presentation depending on the severity and timing of manifestations, which can include café-au-lait spots, neurofibromas, freckling, optic gliomas, bony abnormalities, and an increased risk of malignant nerve sheath tumors and other cancers. The diagnostic criteria require at least 3 features including café-au-lait spots larger than 5mm in c

Author

cornelius

Language

EN