Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

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

Rubinstein-Taybi Syndrome 1

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

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

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

Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome - wikidoc

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

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Rubinstein–Taybi syndrome: clinical and molecular overview