Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy. [electronic resource]
Producer: 20000516Description: 312-4 p. digitalISSN:- 0022-2593
- Abnormalities, Multiple -- genetics
- Alleles
- Child, Preschool
- Cysteine -- analysis
- DNA Helicases
- DNA-Binding Proteins -- genetics
- Drosophila Proteins
- Female
- Hair -- abnormalities
- Humans
- Keratoderma, Palmoplantar -- genetics
- Mutation
- Photosensitivity Disorders -- genetics
- Proteins -- genetics
- Skin Abnormalities -- genetics
- Transcription Factors
- Xeroderma Pigmentosum Group D Protein
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Publication Type: Case Reports; Letter
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