Article
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
The Journal of dermatology - 1 Dec 2012
Pehlivan Davut, Cefle Kivanc, Raams Anja, Ozturk Sukru, Baykal Can, Kleijer Wim J, Palanduz Sukru, Jaspers Nicolaas G J
Abstract excerpt
Trichothiodystrophy (TTD) is a rare, recessive condition involving multiple organs and systems. Four genes associated with nuclear excision repair have been described in the molecular etiology of TTD. There is a significant heterogeneity of clinical and laboratory findings of TTD, even in individuals carrying the same mutation. Worldwide, approximately 120 cases have been reported, mostly from Western populations...
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