Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.
Savarirayan
R
R
Gardner
R J
RJ
Sinclair
R D
RD
McDowell
M
M
Cleaver
J E
JE
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
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