1. Pena, S. D. & Shokeir, M. H. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin. Genet. 5, 285–293 (1974).
2. Graham, J. M. Jr, Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J. & Garritsen, V. H. et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am. J. Hum. Genet. 69, 291–300 (2001).
3. Frederick, G. D., Amirkhan, R. H., Schultz, R. A. & Friedberg, E. C. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum. Mol. Genet. 3, 1783–1788 (1994).
4. Takayama, K., Salazar, E. P., Lehmann, A., Stefanini, M., Thompson, L. H. & Weber, C. A. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res. 55, 5656–5663 (1995).
5. Broughton, B. C., Thompson, A. F., Harcourt, S. A., Vermeulen, W., Hoeijmakers, J. H. & Botta, E. et al. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet. 56, 167–174 (1995).