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