Please use this identifier to cite or link to this item: 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
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:Head & Neck
Dermatology



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