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

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

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) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

Clinical and molecular findings of the six patients with Rubinstein

Rubinstein-Taybi Syndrome: A Rare Case Report

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

Mosaic CREBBP mutation causes overlapping clinical features of

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

High frequency of copy number imbalances in Rubinstein–Taybi