De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

W. M. R. van den Akker, I. Brummelman, L. M. Martis, R. N. Timmermans, R. Pfundt, T. Kleefstra, M. H. Willemsen, E. H. Gerkes, J. C. Herkert, A. J. van Essen, P. Rump, F. Vansenne, P. A. Terhal, M. M. van Haelst, I. Cristian, C. E. Turner, M. T. Cho, A. Begtrup, R. Willaert, E. FassiK. L. I. van Gassen, A. P. A. Stegmann, B. B. A. de Vries, J. H. M. Schuurs-Hoeijmakers*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Original languageEnglish
Pages (from-to)1000-1007
Number of pages8
JournalClinical Genetics
Volume93
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • CDK13
  • congenital heart defects
  • de novo variants
  • developmental delay
  • facial dysmorphism
  • intellectual disability
  • splice-site variant
  • whole-exome sequencing
  • INTELLECTUAL DISABILITY
  • MUTATIONS
  • EXPRESSION
  • DOMAIN
  • GENES

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