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RETT SYNDROME website version

2013-10-22 09:43 閱讀:1170 來源:愛愛醫(yī) 責任編輯:houkaifeng
[導讀] 《RETT SYNDROME website version》內(nèi)容預覽 SUMMARY Background Recognition of Rett syndrome Management of Rett Syndrome RETT SYNDROME Described in 1966 by Andreas Rett First described in English by Hagberg in 1983 1999 mutations in MECP2 gen

《RETT SYNDROME website version》內(nèi)容預覽:
(專家課件預覽:點擊下圖可進行全文預覽)

    SUMMARY

    Background
     Recognition of Rett syndrome
     Management of Rett Syndrome

    RETT SYNDROME

    Described in 1966 by Andreas Rett
     First described in English by Hagberg in 1983
     1999 – mutations in MECP2 gene reported
     Methyl CpG binding protein 2
     CDKL5 cyclin-dependent kinase like 5
    
    RETT PHENOTYPE

    Rett syndrome
     Normal early development*
     Withdrawn autistic behaviour; loss of language
     Loss of hand-skills; stereotypic hand movements
     Deceleration of head growth
     Seizure disorder
     Progressive course with well described stages
     Caution re prognosis as broader phenotype recognised

《RETT SYNDROME website version》原文下載:
     http://ziyuan.iiyi.com/source/down/2374558.html


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