Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.

Jacqueline Harris E Mark Mahone Hans Tomas Bjornsson

Published in: Journal of intellectual disability research : JIDR (2019)

Together, our data suggest specific disruption of visuospatial function, likely linked to the dentate gyrus, in individuals with KS and provide the groundwork for a novel and specific outcome measure for a clinical trial in a KS population.

Keyphrases

clinical trial
working memory
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
randomized controlled trial
prognostic factors
big data
study protocol
machine learning
deep learning
artificial intelligence
phase iii