Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al-Aama, Yolande van Bever, Michael B. Bober, Jill Clayton-Smith, Alaa Y. Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. Hennekam, Maaike C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, Willie Reardon, Alison Ross, Pierre SardaConstance T. R. M. Schrander-Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David L. Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine V. A. M. Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M. H. F. Bongers

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)598-606
JournalEuropean Journal of Human Genetics
Volume20
Issue number6
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Meier-Gorlin syndrome
  • ear-patella-short stature syndrome
  • origin recognition complex
  • pre-replication complex
  • genotype-phenotype

Cite this

de Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Clayton-Smith, J., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M., Ramadevi, A. R., Reardon, W., Ross, A., ... Bongers, E. M. H. F. (2012). Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics, 20(6), 598-606. https://doi.org/10.1038/ejhg.2011.269