Article
[Progress in diagnosis and treatment of neurofibromatosis in children].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jun 2022
Wang Shengcai, Li Yanzhen, Zhang Jie, Ni Xin
Abstract excerpt
Neurofibromatosis type 1（NF1） is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or down-regulation of neurofibromin. This results in a series of neurocutaneous lesions characterized by neurofibromatosis. Patients with plexiform neurofibromas（PN）, as one of the main manifestations of NF1, often experience pain, dysfunction, skeletal...
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