Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.

Autor: Broughton, Bernard C., Berneburg, Mark, Fawcett, Heather, Taylor, ElaineM., Arlett, ColinF., Nardo, Tiziana, Stefanini, Miria, Menefee, Emory, Price, Vera H., Queille, Sophie, Sarasin, Alain, Bohnert, Elisabeth, Krutmann, Jean, Davidson, Rosemarie, Kraemer, Kenneth H., Lehmann, AlanR.
Zdroj: Human Molecular Genetics; Oct2001, Vol. 10 Issue 22, p2539-2547, 9p
Databáze: Complementary Index