Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

J.M. (John) Graham Jr., K Anyane0Yeboa, Anja Raams, E (Esther) Appeldoorn, W Kleijer, VH Garritsen, D Busch, TG Edersheim, Koos Jaspers

Research output: Contribution to journalArticleAcademicpeer-review

103 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)291-300
Number of pages10
JournalAmerican Journal of Human Genetics
Volume69
Publication statusPublished - 2001

Research programs

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

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