TY  - GEN
AU  - Savarirayan,R
AU  - Gardner,R J
AU  - Sinclair,R D
AU  - McDowell,M
AU  - Cleaver,J E
TI  - Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy
SN  - 0022-2593
PY  - 2000///0516
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Alleles
KW  - Child, Preschool
KW  - Cysteine
KW  - analysis
KW  - DNA Helicases
KW  - DNA-Binding Proteins
KW  - Drosophila Proteins
KW  - Female
KW  - Hair
KW  - abnormalities
KW  - Humans
KW  - Keratoderma, Palmoplantar
KW  - Mutation
KW  - Photosensitivity Disorders
KW  - Proteins
KW  - Skin Abnormalities
KW  - Transcription Factors
KW  - Xeroderma Pigmentosum Group D Protein
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1136/jmg.37.4.312
ER  -