Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder
characterized by cognitive impairment and several multiple congenital anomalies. The …

The genetic basis of Rubinstein–Taybi syndrome (RSTS), a rare, sporadic, clinically
heterogeneous disorder characterized by cognitive impairment and a wide spectrum of …

Abstract The Rubinstein–Taybi syndrome (RTS) is a rare autosomal-dominant disease
associated with 10–15% of cases with 16p13. 3 microdeletions involving the CREB-binding …

Rubinstein–Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in
the closely related CREBBP and EP300 genes, accounting respectively for up to 60 and 3 …

Mutations in CREBBP cause Rubinstein–Taybi syndrome. By using exome sequencing, and
by using Sanger in one patient, CREBBP mutations were detected in 11 patients who did …

Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder
characterized by broad thumbs and halluces, intellectual disability, distinctive facial features …

Rubinstein–Taybi syndrome (RSTS) is a distinct dominant disorder characterized by short
stature, typical face, broad angulated thumbs and halluces, and mental retardation. The …

In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can
cause a phenotype that differs from Rubinstein–Taybi syndrome (RSTS). Here we report on …

Rubinstein‐Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder
characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features …

Rubinstein–Taybi syndrome (RTS, MIM 180849) is a multiple malformation syndrome
characterized by growth retardation, developmental delay, and dysmorphic features …