Browsing BioMed Central høstingsarkiv by Author "von Tetzchner, Stephen"

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  • De novo mutations in SCN1A are associated with classic Rett syndrome: a case report 
    Henriksen, Mari W; Ravn, Kirstine; Paus, Benedicte; von Tetzchner, Stephen; Skjeldal, Ola H (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases ...