De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
Iris G. M. Wijnen, Hermine E. Veenstra‐Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A.J. Tijssen, Deborah A. Sival, Niklas Darín, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg
Topics & Concepts
Intellectual disabilityFrameshift mutationAtaxiaMissense mutationNonsenseGeneticsSpasticityNonsense mutationMedicineBiologyPhenotypePsychiatryPhysical medicine and rehabilitationGeneGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders