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    CASE REPORT

    A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma

    Ozlem OZ*

    Oncologie, Vol.22, No.3, pp. 155-160, 2020, DOI:10.32604/oncologie.2020.014087

    Abstract Neurofibromatosis type 1 is an autosomal dominant disorder which is characterized by multiple café-au-lait spots in the body, intertriginous freckles, Lisch nodules, neurofibroma, optic glioma and bone dysplasia. One of the clinical characteristics of Neurofibromatosis type 1 is the risk of benign and malignant tumor development. Optic gliomas, a type of astrocytoma, are the most common central nervous system complication in children with Neurofibromatosis type 1 and are seen in 10–15% of cases. In this case report, a patient with an optic glioma and a mutation that was not previously identified in the NF1 gene More >

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