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

Forgotten Diseases Research Foundation

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

PDF) Rubinstein-Taybi syndrome medical guidelines

OMIM diseases as a function of associated HPO phenotypes. Data include

Clinical and molecular findings of the six patients with Rubinstein

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

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

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

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