X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

A. C. J. Gijsbers, Nicolette S. Den Hollander, Apollonia T. J. M. Helderman-van den Enden, Janneke H. M. Schuurs-Hoeijmakers, L. Vijfhuizen, E K. Bijlsma, Arie van Haeringen, K. B. M. Hansson, E. Bakker, Martijn H. Breuning, Claudia A. L. Ruivenkamp

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)71-78
JournalClinical Genetics
Volume79
Issue number1
DOIs
Publication statusPublished - Jan 2011

Keywords

  • CNVs
  • X-chromosome
  • X-inactivation

Cite this

Gijsbers, A. C. J., Den Hollander, N. S., Helderman-van den Enden, A. T. J. M., Schuurs-Hoeijmakers, J. H. M., Vijfhuizen, L., Bijlsma, E. K., van Haeringen, A., Hansson, K. B. M., Bakker, E., Breuning, M. H., & Ruivenkamp, C. A. L. (2011). X-chromosome duplications in males with mental retardation: pathogenic or benign variants? Clinical Genetics, 79(1), 71-78. https://doi.org/10.1111/j.1399-0004.2010.01438.x