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

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

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

Rubinstein-Taybi Syndrome - an overview

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document

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

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

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

IJMS, Free Full-Text

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

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library