The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised
by intellectual disability, well-defined facial features, distal limb anomalies and atypical …

Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification,
while additional alterations may be required for tumor development. However, the view on …

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

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 …

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

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

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

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital
neurodevelopmental disorder, characterized by postnatal growth deficiency, typical …

We report here a novel de novo missense variant affecting the last amino acid of exon 30 of
CREBBP [NM_004380, c. 5170G> A; p.(Glu1724Lys)] in a 17‐year‐old boy presenting mild …