Rubinstein-Taybi syndrome.

Rika Kosaki

Published in: Nihon rinsho. Japanese journal of clinical medicine (2019)

Rubinstein-Taybi syndrome (RTS) is characterized by moderate to severe intellectual disability, distinctive facial features, and broad thumbs and great toes. RTS is caused by haploinsufficiency of CREBBP or EP300 gene.

Keyphrases

intellectual disability
autism spectrum disorder
case report
early onset
genome wide
high intensity
gene expression
copy number
dna methylation