{"title":"[1型神经纤维瘤病发病机制及治疗研究进展]。","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":"{\"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}","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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