《RETT SYNDROME website version》内容预览:
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    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     Withdrawn autistic behaviour; loss of language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

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