Browsing SIHF Open Archive by Author "Skjeldal, Ola Hunsbeth"

Now showing items 1-1 of 1

    • Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome 

      Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola Hunsbeth (Peer reviewed; Journal article, 2020)
      Background and purpose: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a ...