Authors: Graham, JM Anyane-Yeboa, K Raams, A Appeldoorn, E Kleijer, WJ Garritsen, VH Busch, D Edersheim, TG Jaspers, NGJ

Citation: Jm. Graham 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 HU GEN, 69(2), 2001, pp. 291-300