Neurofibromatosis 1 (NF1), previously known as von Recklinghausen disease, is the most common type of NF. The hallmarks of NF1 are multiple café-au-lait macules and neurofibromas. The condition is called segmental NF1 when clinical features are limited to one area of the body due to somatic mosaicism of a pathogenic variant in the NF1 gene.
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Негізгі бет Neurofibromatosis Type 1 Mnemonic | Signs of NF1
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