… The cause of the syndrome in the remaining patients remains … clinical presentation of
Rubinstein–Taybi syndrome, review … Rubinstein–Taybi syndrome (official abbreviation RSTS, but …

Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant
genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is …

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

… patient with Rubinstein-Taybi syndrome. (D) Typical foot characteristics in the same patient.
… Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale …

… Here we present the combined epidemiologic data concerning 45 Dutch patients and 50
patients from the USA with RubinsteinTaybi syndrome and review the literature. Recurrence …

Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by … patients
carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients…

… patients sent to our laboratory with parental consent with the request of genetic analysis for
Rubinstein-Taybi syndrome. … The group consisted of 16 female and 15 male patients, aged 2 …

… of the Rubinstein-Taybi syndrome, we performed a questionnaire study of 50 patients who
had … Individuals with Rubinstein-Taybi syndrome were found to have particular difficulty with …

… Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the
… Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the …

… of patients. However, a highly arched palate, which is a well known sign of Rubinstein-Taybi
syndrome, was found in 15/16 patients … Also interesting is the fact that none of the patients (0/…