神经纤维瘤病1型合并脊柱侧凸.docxVIP

神经纤维瘤病1型合并脊柱侧凸 一、概述 神经纤维瘤病1型(Neurofibromatosis type 1, NF1)是一种累及多系统综合征。患者的17号染色体长臂的NF1基因突变导致神经纤维瘤蛋白(neurofibromin)生成障碍，从而造成多种类型的细胞功能障碍 ADDIN EN.CITE EndNoteCiteAuthorCosta/AuthorYear2002/YearRecNum55/RecNumDisplayText(1)/DisplayTextrecordrec-number55/rec-numberforeign-keyskey app=EN db-id=9vtvrpv0owa5e2eddx45wp58wvs2dzee9r2s timestamp=151209578655/key/foreign-keysref-type name=Journal Article17/ref-typecontributorsauthorsauthorCosta, R. M./authorauthorSilva, A. J./author/authors/contributorsauth-addressDepartment of Neurobiology, Brain Research Institute, University of California, Los Angeles 90095-1761, USA./auth-addresstitlestitleMolecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1/titlesecondary-titleJ Child Neurol/secondary-titlealt-titleJournal of child neurology/alt-title/titlesperiodicalfull-titleJournal of Child Neurology/full-titleabbr-1J. Child Neurol./abbr-1abbr-2J Child Neurol/abbr-2/periodicalalt-periodicalfull-titleJournal of Child Neurology/full-titleabbr-1J. Child Neurol./abbr-1abbr-2J Child Neurol/abbr-2/alt-periodicalpages622-6; discussion 627-9, 646-51/pagesvolume17/volumenumber8/numberedition2002/10/31/editionkeywordskeywordAnimals/keywordkeywordChild/keywordkeywordDNA Mutational Analysis/keywordkeywordDisease Models, Animal/keywordkeywordHumans/keywordkeywordIntellectual Disability/diagnosis/*genetics/keywordkeywordLearning Disorders/diagnosis/*genetics/keywordkeywordMice/keywordkeywordMice, Neurologic Mutants/keywordkeywordNeurofibromatosis 1/diagnosis/*genetics/keywordkeywordNeurofibromin 1/genetics/keyword/keywordsdatesyear2002/yearpub-datesdateAug/date/pub-dates/datesisbn0883-0738 (Print)#xD;0883-0738/isbnaccession-nuaccession-numurls/urlselectronic-resource-num10.1177/088307380201700813/electronic-resource-numremote-database-providerNLM/remote-database-providerlanguageeng/language/record/Cite/EndNote。神经纤维瘤病的主要遗传方式是常染色体显性遗传。神经纤维瘤病1型相对罕见，发病率大约为1/3000-4000 ADDIN EN.CITE ADDIN EN.CI