{"title":"[Research progress on pathogenesis and treatment of neurofibromatosis type 1].","authors":"F Wu, X N Ji, Q Chen","doi":"10.3760/cma.j.cn112140-20230227-00136","DOIUrl":null,"url":null,"abstract":"1型神经纤维瘤病（NF1）是NF1基因变异所致的常染色体显性遗传病，是常见的神经皮肤综合征之一，多于儿童期起病，临床表现包括咖啡牛奶斑、神经纤维瘤、视路胶质瘤等。NF1基因对不同信号通路调控的复杂性是其多样性临床表现的基础。随着分子生物学、遗传学的发展以及对该病认识的提高，关于NF1的研究不断取得进展。本文将综述NF1的发病机制及治疗进展，以期为其诊疗提供更多思路。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":"61 8","pages":"757-760"},"PeriodicalIF":0.0000,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20230227-00136","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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