"Other cases are due to a mutation in either CREB-binding protein (CBP) or E1A-binding protein (p300) 5."
"Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features."
"The radiology reflects the morphological abnormalities described above, particularly of the face, skull and limbs."