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

Koos Jaspers, Anja Raams, MC Silengo, Nils Wijgers, LJ (Laura) Niedernhofer, AR Robinson, GC Giglia, D (Deborah) Hoogstraten, WJ (Wim) Kleijer, Jan Hoeijmakers, Wim Vermeulen

Research output: Contribution to journalArticleAcademicpeer-review

170 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)457-466
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number3
Publication statusPublished - 2007

Research programs

  • EMC MGC-01-12-03
  • EMC MGC-02-96-01

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