Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

Rubinstein-Taybi syndrome is an intellectual disability which causes short stature, distinctive facial features, and varying cognitive deficits.

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus

Rubinstein–Taybi syndrome - Wikipedia

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library

IJMS, Free Full-Text

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Hands and feet in RTS. Broad thumbs, broad terminal phalanges were seen.

A Case of Rubinstein—Taybi Syndrome: Notes on Some Unusual Manifestations, and an Evaluation by Rubinstein - Yehezkel Naveh, Abraham Friedman, 1976

Rubinstein-Taybi Syndrome by Alexandra Wilegus

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot