Microdeletions and mutations of CREBBP (CBP) gene can cause

Genes, Free Full-Text

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

Rubinstein-Taybi Syndrome 1

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

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

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of