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http://hdl.handle.net/11434/766
Title: | Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy. |
Epworth Authors: | Sinclair, Rodney |
Other Authors: | Savarirayan, R. Gardner, R. J. McDowell, M. Cleaver, J. E. |
Keywords: | Abnormalities, Multiple Genetics Physiopathology Alleles Child, Preschool Cysteine Analysis DNA Helicases DNA-Binding Proteins Drosophila Proteins Keratoderma, Palmoplantar Mutation Photosensitivity Disorders Proteins Skin Abnomalities Transciption Factors Xeroderma Pigmentosum Group D Protein Trichothiodystrophies TTD Head & Neck Clinical Institute, Epworth HealthCare, Victoria, Australia |
Issue Date: | Apr-2000 |
Publisher: | BMJ Group |
Citation: | J Med Genet. 2000 Apr;37(4):312-4. |
URI: | http://hdl.handle.net/11434/766 |
URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734571/pdf/v037p00312.pdf |
PubMed URL: | http://www.ncbi.nlm.nih.gov/pubmed/10819642 |
ISSN: | 0022-2593 1468-6244 |
Journal Title: | Journal of Medical Genetics |
Type: | Letter |
Affiliated Organisations: | Victorian Clinical Genetics Service, Royal Children’s Hospital, Melbourne, Victoria, Australia. Skin and Cancer Foundation, Melbourne, Victoria 3053, Australia. UCSF Cancer Center, University of California, San Francisco,CA, USA. |
Type of Clinical Study or Trial: | Case Reports |
Appears in Collections: | Dermatology Head & Neck |
Files in This Item:
File | Description | Size | Format | |
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Rough skin, brittle hair, and photosensitivity a mild phenotypic variant of trichothiodystrophy..pdf | 158.25 kB | Adobe PDF | View/Open |
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