Photosensitive Trichothiodystrophy With Complex Cerebral Abnormalities

    April 2012 in “ Neuropediatrics
    H. Schober, I Höliner, S Dertinger, Jürg Lütschg, Felix Offner, B. Simma
    Studysummary This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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