Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome 1

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

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Clinical and molecular findings of the six patients with Rubinstein

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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

Main clinical findings of the 16 Brazilian patients with

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

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library