Rubinstein–Taybi syndrome in diverse populations - Tekendo

Genes, Free Full-Text

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

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

Rubinstein-Taybi Syndrome

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

Rubinstein-Taybi syndrome - wikidoc

Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect

High frequency of copy number imbalances in Rubinstein–Taybi

New insights into genetic variant spectrum and genotype–phenotype