Article
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
American journal of human genetics - 1 Oct 1998
Botta E, Nardo T, Broughton B C, Marinoni S, Lehmann A R, Stefanini M
Abstract excerpt
Xeroderma pigmentosum (XP) complementation group D is a heterogeneous group, containing patients with XP alone, rare cases with both XP and Cockayne syndrome, and patients with trichothiodystrophy (TTD). TTD is a rare autosomal recessive multisystem disorder associated, in many patients, with a d...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Cockayne Syndrome
- DNA Helicases
- DNA Repair
- DNA-Binding Proteins
- Female
- Gene Dosage
- Hair
- Humans
- Italy
- Male
- Mutation