Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

Forgotten Diseases Research Foundation

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

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

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF

Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

Mosaic CREBBP mutation causes overlapping clinical features of

High frequency of copy number imbalances in Rubinstein–Taybi