Article
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
American journal of human genetics - 1 Feb 1997
Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers J H, Mezzina M, Sarasin A
Abstract excerpt
Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis. Photosensitivity has been reported in approximately 50% of the cases, but no skin cancer is associated with...
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