Authors: Jaspers, Nicolaas G.J. Raams, Anja Cirillo Silengo, Margherita Wijgers, Nils Niedernhofer, Laura J. Robinson, Andria Rasile Giglia-Mari, Giuseppina Hoogstraten, Deborah Kleijer, Wim J. Hoeijmakers, Jan H.J. Vermeulen, Wim

Citation: Jaspers, Nicolaas G.j et al., First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure, American journal of human genetics , 80(3), 2007, pp. 457-466