The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Aimee D. C. Paulussen, Constance T. R. M. Schrander-Stumpel, Demis C. J. Tserpelis, Matteus K. M. Spee, Alexander P. A. Stegmann, Grazia M. S. Mancini, Alice S. Brooks, Margriet J. Collee, Anneke Maat-Kievit, Marleen E. H. Simon, Yolande van Bever, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Johanna C. Herkert, Anthonie J. van Essen, Klaske D. Lichtenbelt, Arie van Haeringen, Mei L. Kwee, Augusta M. A. Lachmeijer, Gita M. B. Tan-SindhunataMerel C. van Maarle, Yvonne H. J. M. Arens, Eric E. J. G. L. Smeets, Christine E. M. de Die-Smulders, John J. M. Engelen, Hubertus J. M. Smeets, Jos Herbergs

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)999-1005
JournalEuropean Journal of Human Genetics
Volume18
Issue number9
DOIs
Publication statusPublished - 10 Sep 2010

Keywords

  • Holoprosencephaly
  • SHH
  • SIX3
  • ZIC2
  • TGIF
  • genotype-phenotype

Cite this

Paulussen, A. D. C., Schrander-Stumpel, C. T. R. M., Tserpelis, D. C. J., Spee, M. K. M., Stegmann, A. P. A., Mancini, G. M. S., Brooks, A. S., Collee, M. J., Maat-Kievit, A., Simon, M. E. H., van Bever, Y., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Herkert, J. C., van Essen, A. J., Lichtenbelt, K. D., van Haeringen, A., Kwee, M. L., Lachmeijer, A. M. A., ... Herbergs, J. (2010). The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. European Journal of Human Genetics, 18(9), 999-1005. https://doi.org/10.1038/ejhg.2010.70