Usher综合征
王轶;王直中;曹克利
1:北京协和医院耳鼻咽喉科!北京100005
2:北京协和医院耳鼻咽喉科!北京100005
3:北京协和医院耳鼻咽喉科!北京100005
摘要关键词基金项目(Foundation):作者参考文献1 MollerCG ,KimberlingWJ ,DavenportSLH ,etal.Ushersyndrome :Anotoneurologicstudy[J] .Laryngerscope,1989,99:73 .
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4 MariteeaJ,WaltersKS ,BurgessR ,etal.Usher’ssyndrometypeIC :clinicalstudiesandfine -mapingthediseaselocus[J] .AnnOtolRhi nolLaryngol,1997,10 6 :12 3.
5 ShinkawaH ,NadolJB .HistopathologyoftheinnerearinUsher’ssyn dromeasobservedbylightandelectronmicroscopy[J] .AnnOtolRhi nolLarygol,1986 ,95 :313.
6 EudyJD ,WestonMD ,YaoSF ,etal.MutationofageneencodingaproteinwithextracellularmatrixmotifsinUshersyndrometypella[J] .Science ,1998,2 80 :175 3.
7 AdatoA ,WeilD ,HalinskiH ,etal.Mutationprofileofall 49exonsofthehumannMyosinVIIAgeneandhaplotypeanalysisinUsherIBfami liesfromdiverseorigins[J] .AmJHumGenet,1997,6 1:813 .
8 SteelKP ,MburunP ,GibsonF ,etal.Unravellingthegeneticsofdeaf ness[J] .AnnOtolRhinolLaryngol,1997,10 6 :5 9.
9 SelfT ,MahonyM ,FlemingJ,etal.Shake-lmutationsrevealrolesformyosinVIIAinbothdevelopmentandfunctionofckchlearhaircells[J] .Development,1998,12 5 :5 5 7.