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

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)
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

Cite this

Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., & Vissers, L. E. L. M. (2016). De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clinical Genetics, 90(5), 413-419. https://doi.org/10.1111/cge.12729