DNA Tamir Bozuklukları ve Görüntüleme Bulguları

Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype phenotyperelationship. Neuroscience. 2007;145(4):1388-96.

Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. 2008;45(10):609-21.

Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, et al. Neurological symptoms and natural course of xeroderma pigmentosum. Brain: a journal of neurology. 2008;131(Pt 8):1979-89.