A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

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 TTD...

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Detalhes bibliográficos
Main Authors: Weeda, G, Eveno, E, Donker, I, Vermeulen, W, Chevallier-Lagente, O, Taïeb, A, Stary, A, Hoeijmakers, J H, Mezzina, M, Sarasin, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712398/
https://ncbi.nlm.nih.gov/pubmed/9012405
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