Rubinstein-Taybi Syndrome

Exon deletions of the EP300 and CREBBP genes in two children with

First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

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

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Chemical and genetic rescue of an ep300 knockdown model for