Litcius/Paper detail

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

2020European Journal of Human Genetics14 citationsDOIOpen Access PDF

Topics & Concepts

Intellectual disabilityFrameshift mutationAtaxiaMissense mutationNonsenseGeneticsSpasticityNonsense mutationMedicineBiologyPhenotypePsychiatryPhysical medicine and rehabilitationGeneGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders