Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

Alice Brooks, AM Bertoli Avella, GM Burzynski, Guido Breedveld, J Osinga, LG Boven, JA Hurst, Grazia Verheijen - Mancini, MH Lequin, IFM Coo, I Matera, Esther Graaff, C Meijers, PJ Willems, Dick Tibboel, Ben Oostra, RMW Hofstra

Research output: Contribution to journalArticleAcademicpeer-review

137 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)120-126
Number of pages7
JournalAmerican Journal of Human Genetics
Volume77
Issue number1
DOIs
Publication statusPublished - 2005

Research programs

  • EMC MGC-02-53-01-A
  • EMC MGC-02-96-01
  • EMC MM-04-44-02
  • EMC NIHES-03-30-01

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