De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

I.G.M. Wijnen, H.E. Veenstra-Knol, F. Vansenne, E.H. Gerkes, T. de Koning, Y.J. Vos, M.A.J. Tijssen, D. Sival, N. Darin, E.K. Vanhoutte, M. Oosterloo, M. Pennings, B.P. van de Warrenburg, E.J. Kamsteeg

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)763-769
Number of pages7
JournalEuropean Journal of Human Genetics
Volume28
Issue number6
DOIs
Publication statusPublished - 1 Jun 2020

Keywords

  • mutations
  • paraplegias
  • transcription
  • TRANSCRIPTION
  • PARAPLEGIAS
  • MUTATIONS

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