Expanding the phenotype associated to KMT2A variants: overlapping

Genes, Free Full-Text

Facial features of Rubinstein-Taybi syndrome

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

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

IJMS, Free Full-Text

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

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics