Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

PDF) Rubinstein-Taybi syndrome medical guidelines

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

CBP and p300 transcript levels in Rubinstein e Taybi syndrome (RSTS)

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

Rubinstein-Taybi Syndrome

IJMS, Free Full-Text

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