De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

S. Jansen, T. Kleefstra, M. H. Willemsen, P. de Vries, R. Pfundt, J. Y. Hehir-Kwa, C. Gilissen, J. A. Veltman, B. B. A. de Vries*, L. E. L. M. Vissers

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)413-419
JournalClinical Genetics
Volume90
Issue number5
DOIs
Publication statusPublished - Nov 2016

Keywords

  • Cornelia de Lange syndrome
  • epilepsy
  • intellectual disability
  • loss-of-function
  • SMC1A

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