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

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

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry

Immunology and Microbiology