Sökning: "Rett syndrome RTT"

Visar resultat 6 - 6 av 6 avhandlingar innehållade orden Rett syndrome RTT.

  1. 6. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Författare :Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Sammanfattning : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. LÄS MER