title: Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
authors.forename: R D
authors.initials: RD
authors.lastname: Sinclair
authors.forename: M
authors.initials: M
authors.lastname: McDowell
authors.forename: J E
authors.initials: JE
authors.lastname: Cleaver
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000483:Alleles; D002675:Child, Preschool; D003545:Cysteine / Q000032:analysis; D004265:DNA Helicases; D004268:DNA-Binding Proteins / Q000235:genetics; D029721:Drosophila Proteins; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation; D010787:Photosensitivity Disorders / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics*; D014157:Transcription Factors; D051759:Xeroderma Pigmentosum Group D Protein
chemical_list: D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D011506:Proteins; D014157:Transcription Factors; C078672:hay protein, Drosophila; D004265:DNA Helicases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human; D003545:Cysteine